{"entity": "journal", "iuid": "bd6c02d8db48495abf8bd3f4e6be3b5f", "timestamp": "2026-08-15T13:32:57.870Z", "links": {"self": {"href": "https://publications.scilifelab.se/journal/Mol.%20Psychiatry.json"}, "display": {"href": "https://publications.scilifelab.se/journal/Mol.%20Psychiatry"}}, "title": "Mol. Psychiatry", "issn": "1476-5578", "issn-l": "1359-4184", "publications_count": 24, "publications": [{"entity": "publication", "iuid": "eaced373ebb042569f6b0fc22e49aec1", "links": {"self": {"href": "https://publications.scilifelab.se/publication/eaced373ebb042569f6b0fc22e49aec1.json"}, "display": {"href": "https://publications.scilifelab.se/publication/eaced373ebb042569f6b0fc22e49aec1"}}, "title": "Developmentally dynamic, non-convergent transcriptomic profiles in CNV models for schizophrenia risk.", "authors": [{"family": "French", "given": "Hayley", "initials": "H"}, {"family": "Yao", "given": "Shuyang", "initials": "S", "orcid": "0000-0001-9669-4470", "researcher": {"href": "https://publications.scilifelab.se/researcher/fcd036ee020e4622ad16d020bfcd7b38.json"}}, {"family": "Bast", "given": "Lisa", "initials": "L", "orcid": "0000-0001-8489-3923", "researcher": {"href": "https://publications.scilifelab.se/researcher/5c13ac1740034091b977ef1c421a895a.json"}}, {"family": "Roig Adam", "given": "Amparo", "initials": "A", "orcid": "0000-0003-4515-8365", "researcher": {"href": "https://publications.scilifelab.se/researcher/d2d2104ce15d4fd8a23209718111a9dc.json"}}, {"family": "St\u00fcmpges", "given": "Paul", "initials": "P"}, {"family": "Memic", "given": "Fatima", "initials": "F"}, {"family": "Mulle", "given": "Jennifer", "initials": "J", "orcid": "0000-0001-8593-8468", "researcher": {"href": "https://publications.scilifelab.se/researcher/56749cfe7a504674b6770af510e89f51.json"}}, {"family": "Sullivan", "given": "Patrick F", "initials": "PF", "orcid": "0000-0002-6619-873X", "researcher": {"href": "https://publications.scilifelab.se/researcher/4d95de0b5ab14586980a6a13c8299346.json"}}, {"family": "Hjerling-Leffler", "given": "Jens", "initials": "J", "orcid": "0000-0002-4539-1776", "researcher": {"href": "https://publications.scilifelab.se/researcher/51675f0ff9aa47d89d6b2eb84a14820a.json"}}], "type": "journal article", "published": "2026-06-18", "journal": {"title": "Mol. Psychiatry", "issn": "1476-5578", "issn-l": "1359-4184"}, "abstract": "Schizophrenia is a complex psychiatric disorder with significant genetic and clinical heterogeneity. Although numerous rare copy number variations (CNVs) with high risk for schizophrenia have been identified, they show no obvious overlap in gene content or function. We hypothesized that the downstream effects of schizophrenia-associated CNVs converge on shared molecular pathways. To test this, we profiled the prefrontal cortex of five schizophrenia-associated CNV mouse models - 15q13.3del, 3q29del, 1q21.1del, 22q11.2del, and 16p11.2dup - using single-cell RNA sequencing across two developmental stages: adolescence and adulthood. From 292,943 high-quality single-cell transcriptomes, we identified distinct age- and cell type-specific patterns of differential gene expression and biological pathway perturbations in each model. Rather than converging on a shared molecular mechanism, each CNV affected unique cellular pathways in a developmentally dynamic manner. Notably, genes dysregulated in deep-layer corticothalamic projection neurons from 15q13.3del and 16p11.2dup models, and intratelencephalic neurons from adult 22q11.2del mice, showed enrichment for schizophrenia-SNP heritability. These results support a model in which rare CNVs contribute to schizophrenia genetic risk through developmentally dynamic, distinct pathways rather than through a shared molecular mechanism.", "doi": "10.1038/s41380-026-03679-0", "pmid": "42315919", "labels": {"NGI Stockholm (Genomics Production)": "Service", "NGI Short read": "Service", "National Genomics Infrastructure": "Service"}, "xrefs": [{"db": "pii", "key": "10.1038/s41380-026-03679-0"}], "notes": [], "created": "2026-07-14T18:14:38.632Z", "modified": "2026-07-14T18:14:38.938Z"}, {"entity": "publication", "iuid": "769397eccc3044d2b50395eaade60782", "links": {"self": {"href": "https://publications.scilifelab.se/publication/769397eccc3044d2b50395eaade60782.json"}, "display": {"href": "https://publications.scilifelab.se/publication/769397eccc3044d2b50395eaade60782"}}, "title": "Enduring modulation of dorsal raphe nuclei regulates (R,S)-ketamine-mediated resilient stress-coping behavior.", "authors": [{"family": "Camargo", "given": "Anderson", "initials": "A"}, {"family": "Nilsson", "given": "Anna", "initials": "A"}, {"family": "Shariatgorji", "given": "Reza", "initials": "R"}, {"family": "Appleton", "given": "Ellen", "initials": "E"}, {"family": "Branzell", "given": "Niclas", "initials": "N"}, {"family": "Doyon", "given": "Daniel", "initials": "D"}, {"family": "Giovenzana", "given": "Mattia", "initials": "M", "orcid": "0009-0002-1384-3413", "researcher": {"href": "https://publications.scilifelab.se/researcher/b2cd71f47b7a40d7b996da916888798b.json"}}, {"family": "Zhang", "given": "Xiaoqun", "initials": "X", "orcid": "0000-0002-9461-8682", "researcher": {"href": "https://publications.scilifelab.se/researcher/4f307c88103d43b1b0b893fa59a8e828.json"}}, {"family": "Dautan", "given": "Daniel", "initials": "D"}, {"family": "Andren", "given": "Per E", "initials": "PE", "orcid": "0000-0002-4062-7743", "researcher": {"href": "https://publications.scilifelab.se/researcher/64f6381de42949db8d30b56b526f3e26.json"}}, {"family": "Svenningsson", "given": "Per", "initials": "P", "orcid": "0000-0001-6727-3802", "researcher": {"href": "https://publications.scilifelab.se/researcher/5199496295334771ba3c5621a83a6f43.json"}}], "type": "journal article", "published": "2025-06-00", "journal": {"title": "Mol. Psychiatry", "issn": "1476-5578", "volume": "30", "issue": "6", "pages": "2504-2516", "issn-l": "1359-4184"}, "abstract": "Ketamine may be a novel pharmacologic approach to enhance resilience and protect against stress-related disorders, but the molecular targets underlying this response remain to be fully characterized. The multifunctional protein p11 is crucial in the pathophysiology of depression and antidepressant responses. However, it is still unclear whether p11 plays a role in the pro-resilience effects induced by ketamine. Here, we demonstrated that prophylactic administration of ketamine buffers passive stress-induced maladaptive phenotypes induced by chronic stress exposure. Spatial neurotransmitter and metabolite analysis revealed that prophylactic ketamine was also effective in blunting stress-induced disturbances of tryptophan metabolism in dorsal raphe nuclei (DRN). Additionally, we demonstrated that ketamine prevented chronic restraint stress-induced p11 reduction in DRN, a highly p11-enriched region. Furthermore, we provide novel evidence indicating that p11 deficiency regulates susceptibility to stress-induced depression-related phenotypes, and these behavioral maladaptations are dependent, at least in part, on p11 function in serotonergic neurons. Spatial neurotransmitter and metabolite analysis also showed a reduction of tryptophan and dopamine metabolism in DRN of serotonergic p11-deficient mice. Viral-mediated downregulation of p11 within DRN induced a stress-susceptible phenotype. Finally, our results also unveiled that the ability of ketamine to elicit a pro-resilience response against stress-induced maladaptive phenotypes was occluded when p11 was selectively deleted in serotonergic neurons. Altogether, we showed a previously unexplored role of the DRN circuit in regulating stress susceptibility and resilience-enhancing actions of ketamine.", "doi": "10.1038/s41380-024-02853-6", "pmid": "39592824", "labels": {"Spatial Mass Spectrometry": "Collaborative"}, "xrefs": [{"db": "pmc", "key": "PMC12092261"}, {"db": "pii", "key": "10.1038/s41380-024-02853-6"}], "notes": [], "created": "2025-11-21T09:46:25.178Z", "modified": "2025-11-21T09:46:25.384Z"}, {"entity": "publication", "iuid": "5ac793dd249344008f500a4190f4df49", "links": {"self": {"href": "https://publications.scilifelab.se/publication/5ac793dd249344008f500a4190f4df49.json"}, "display": {"href": "https://publications.scilifelab.se/publication/5ac793dd249344008f500a4190f4df49"}}, "title": "Three cases with chronic obsessive compulsive disorder report gains in wellbeing and function following rituximab treatment.", "authors": [{"family": "Gallwitz", "given": "Maike", "initials": "M", "orcid": "0000-0001-9030-5470", "researcher": {"href": "https://publications.scilifelab.se/researcher/3b150eb79b914a6a8e44b28f74f411fd.json"}}, {"family": "Lindqvist", "given": "Isa", "initials": "I", "orcid": "0000-0002-5384-2805", "researcher": {"href": "https://publications.scilifelab.se/researcher/69d00ee1a68845a0bef066173e7c565d.json"}}, {"family": "Mulder", "given": "Jan", "initials": "J", "orcid": "0000-0003-3717-5018", "researcher": {"href": "https://publications.scilifelab.se/researcher/a8443b271929476bb2b569e39bae732c.json"}}, {"family": "Rasmusson", "given": "Annica J", "initials": "AJ", "orcid": "0000-0002-7228-7755", "researcher": {"href": "https://publications.scilifelab.se/researcher/7ef833f6dd204c189586fba5c33d1d58.json"}}, {"family": "Larsson", "given": "Anders", "initials": "A"}, {"family": "Hus\u00e9n", "given": "Evelina", "initials": "E"}, {"family": "Borin", "given": "Jesper", "initials": "J"}, {"family": "van der Spek", "given": "Peter J", "initials": "PJ", "orcid": "0000-0002-2203-0652", "researcher": {"href": "https://publications.scilifelab.se/researcher/16f1b64d48d44a95ba9e7bc082076032.json"}}, {"family": "Sabbagh", "given": "Nour", "initials": "N"}, {"family": "Widgren", "given": "Anna", "initials": "A"}, {"family": "Bergquist", "given": "Jonas", "initials": "J", "orcid": "0000-0002-4597-041X", "researcher": {"href": "https://publications.scilifelab.se/researcher/d745034529f3423abbea230b4e586d20.json"}}, {"family": "Cervenka", "given": "Simon", "initials": "S"}, {"family": "Burman", "given": "Joachim", "initials": "J"}, {"family": "Cunningham", "given": "Janet L", "initials": "JL", "orcid": "0000-0001-7876-7779", "researcher": {"href": "https://publications.scilifelab.se/researcher/3ab30dd6c6874bc7a227a8699c4a7085.json"}}], "type": "journal article", "published": "2025-04-00", "journal": {"title": "Mol. Psychiatry", "issn": "1476-5578", "volume": "30", "issue": "4", "pages": "1396-1406", "issn-l": "1359-4184"}, "abstract": "Immunological aetiology is supported for a subgroup with obsessive compulsive disorder (OCD) and conceptualized as autoimmune OCD. The longitudinal clinical course is detailed for three severely ill cases with OCD and indications of immunological involvement with off-label rituximab treatment every six months. All cases showed clear and sustained gains regarding symptom burden and function for over 2.5 years. Brief Psychiatric Rating Scale and Yale-Brown Obsessive-Compulsive Inventory Scale scores decreased 67-100% and 44-92%, respectively. These complex cases, prior to rituximab, had very low functioning and disease duration has been eight, nine and 16 years respectively. All three patients had been unsuccessfully treated with at least two antidepressants or anxiolytics, one neuroleptic and cognitive behavioural therapy. Clinical phenotypes and findings were suggestive of possible autoimmune OCD. Indirect immunohistochemistry detected cerebral spinal fluid (CSF) antibodies in all three cases including a novel anti-neuronal staining pattern against mouse thalamic cells. Exploratory analyses of CSF markers and proteomics identified elevated levels of sCD27 and markers indicative of complement pathway activation when compared to CSF from healthy controls. Multidisciplinary collaboration, advanced clinical investigations and rituximab treatment are feasible in a psychiatric setting. The case histories provide a proof of principle for the newly proposed criteria for autoimmune OCD. The findings suggest that clinical red flags and biological measures may predict rituximab response in chronic treatment-resistant OCD. The report provides orientation that may inform the hypotheses and design of future treatment trials.", "doi": "10.1038/s41380-024-02750-y", "pmid": "39304742", "labels": {"Affinity Proteomics Uppsala": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC11919689"}, {"db": "pii", "key": "10.1038/s41380-024-02750-y"}], "notes": [], "created": "2025-11-25T19:23:17.778Z", "modified": "2025-11-25T19:23:18.055Z"}, {"entity": "publication", "iuid": "905503ab005d4de1b7710f488a80b3af", "links": {"self": {"href": "https://publications.scilifelab.se/publication/905503ab005d4de1b7710f488a80b3af.json"}, "display": {"href": "https://publications.scilifelab.se/publication/905503ab005d4de1b7710f488a80b3af"}}, "title": "Genome-Wide Association Study of Obsessive-Compulsive Symptoms including 33,943 individuals from the general population.", "authors": [{"family": "Strom", "given": "Nora I", "initials": "NI", "orcid": "0000-0002-5261-8852", "researcher": {"href": "https://publications.scilifelab.se/researcher/bcd18b76d8d948dfb5529a2be294ecab.json"}}, {"family": "Burton", "given": "Christie L", "initials": "CL", "orcid": "0000-0002-8955-6528", "researcher": {"href": "https://publications.scilifelab.se/researcher/4607f407ac9d4213a81b4a77b4cce4ad.json"}}, {"family": "Iyegbe", "given": "Conrad", "initials": "C", "orcid": "0000-0003-4908-5183", "researcher": {"href": "https://publications.scilifelab.se/researcher/4cd641fce5e543aea0ccd02982d92db0.json"}}, {"family": "Silzer", "given": "Talisa", "initials": "T", "orcid": "0000-0002-8894-0368", "researcher": {"href": "https://publications.scilifelab.se/researcher/bab53669fd09412bb6cea8e9ba045a07.json"}}, {"family": "Antonyan", "given": "Lilit", "initials": "L", "orcid": "0000-0002-6138-3725", "researcher": {"href": "https://publications.scilifelab.se/researcher/7514916d8c1845c5b05ecda57a1e6178.json"}}, {"family": "Pool", "given": "Ren\u00e9", "initials": "R", "orcid": "0000-0001-5579-0933", "researcher": {"href": "https://publications.scilifelab.se/researcher/fc33e91c50654a6a88a44db4b6755f73.json"}}, {"family": "Lemire", "given": "Mathieu", "initials": "M", "orcid": "0000-0001-6222-9028", "researcher": {"href": "https://publications.scilifelab.se/researcher/40eb65594aa6465487bd22280813868a.json"}}, {"family": "Crowley", "given": "James J", "initials": "JJ", "orcid": "0000-0001-9051-1557", "researcher": {"href": "https://publications.scilifelab.se/researcher/14ecad66262b47dcadebcc8c7e759024.json"}}, {"family": "Hottenga", "given": "Jouke-Jan", "initials": "JJ", "orcid": "0000-0002-5668-2368", "researcher": {"href": "https://publications.scilifelab.se/researcher/75553b594b1f4255833de730f7f7d170.json"}}, {"family": "Ivanov", "given": "Volen Z", "initials": "VZ", "orcid": "0000-0001-6349-0500", "researcher": {"href": "https://publications.scilifelab.se/researcher/aedb00517ebb4620b67d7ca53fbc6207.json"}}, {"family": "Larsson", "given": "Henrik", "initials": "H", "orcid": "0000-0002-6851-3297", "researcher": {"href": "https://publications.scilifelab.se/researcher/21f2cca2f6b74c5393c0fc33bcf15ee6.json"}}, {"family": "Lichtenstein", "given": "Paul", "initials": "P", "orcid": "0000-0003-3037-5287", "researcher": {"href": "https://publications.scilifelab.se/researcher/4db67c51837b4cdfa18cacbc3fca1173.json"}}, {"family": "Magnusson", "given": "Patrik", "initials": "P", "orcid": "0000-0002-7315-7899", "researcher": {"href": "https://publications.scilifelab.se/researcher/b277b6387de142bbab91fad82d9eff09.json"}}, {"family": "R\u00fcck", "given": "Christian", "initials": "C", "orcid": "0000-0002-8742-0168", "researcher": {"href": "https://publications.scilifelab.se/researcher/496a782babf3403ba32f805f360d246f.json"}}, {"family": "Schachar", "given": "Russell", "initials": "R", "orcid": "0000-0002-2015-4395", "researcher": {"href": "https://publications.scilifelab.se/researcher/b38a298da97e4917951701907b4e9c3f.json"}}, {"family": "Wu", "given": "Hei Man", "initials": "HM", "orcid": "0000-0003-1559-7586", "researcher": {"href": "https://publications.scilifelab.se/researcher/1578fafcb32642609d408fcff09cd91e.json"}}, {"family": "Cath", "given": "Danielle", "initials": "D"}, {"family": "Crosbie", "given": "Jennifer", "initials": "J", "orcid": "0000-0002-8710-3322", "researcher": {"href": "https://publications.scilifelab.se/researcher/c600d1e64efa49738c960f7fb8f8f7b0.json"}}, {"family": "Mataix-Cols", "given": "David", "initials": "D", "orcid": "0000-0002-4545-0924", "researcher": {"href": "https://publications.scilifelab.se/researcher/9954431e50b749aeb6957835ae1632f3.json"}}, {"family": "Boomsma", "given": "Dorret I", "initials": "DI", "orcid": "0000-0002-7099-7972", "researcher": {"href": "https://publications.scilifelab.se/researcher/4b66ab2525fd4a468e7a4ad14c955cb4.json"}}, {"family": "Mattheisen", "given": "Manuel", "initials": "M", "orcid": "0000-0002-8442-493X", "researcher": {"href": "https://publications.scilifelab.se/researcher/c38fef539c2c4cebb81eff917aa3d4ef.json"}}, {"family": "Meier", "given": "Sandra M", "initials": "SM", "orcid": "0000-0002-3287-5894", "researcher": {"href": "https://publications.scilifelab.se/researcher/8c232f699657481ea911bbb5ed11ea1b.json"}}, {"family": "Smit", "given": "Dirk J A", "initials": "DJA", "orcid": "0000-0001-8301-8860", "researcher": {"href": "https://publications.scilifelab.se/researcher/fe64f7980537495aba79c0eca978e95d.json"}}, {"family": "Arnold", "given": "Paul D", "initials": "PD", "orcid": "0000-0003-2496-4624", "researcher": {"href": "https://publications.scilifelab.se/researcher/c21fa35b3bf246ab8a96866510fc069b.json"}}], "type": "journal article", "published": "2024-09-00", "journal": {"title": "Mol. Psychiatry", "issn": "1476-5578", "volume": "29", "issue": "9", "pages": "2714-2723", "issn-l": "1359-4184"}, "abstract": "While 1-2% of individuals meet the criteria for a clinical diagnosis of obsessive-compulsive disorder (OCD), many more (~13-38%) experience subclinical obsessive-compulsive symptoms (OCS) during their life. To characterize the genetic underpinnings of OCS and its genetic relationship to OCD, we conducted the largest genome-wide association study (GWAS) meta-analysis of parent- or self-reported OCS to date (N = 33,943 with complete phenotypic and genome-wide data), combining the results from seven large-scale population-based cohorts from Sweden, the Netherlands, England, and Canada (including six twin cohorts and one cohort of unrelated individuals). We found no genome-wide significant associations at the single-nucleotide polymorphism (SNP) or gene-level, but a polygenic risk score (PRS) based on the OCD GWAS previously published by the Psychiatric Genetics Consortium (PGC-OCD) was significantly associated with OCS (Pfixed = 3.06 \u00d7 10-5). Also, one curated gene set (Mootha Gluconeogenesis) reached Bonferroni-corrected significance (Ngenes = 28, Beta = 0.79, SE = 0.16, Pbon = 0.008). Expression of genes in this set is high at sites of insulin mediated glucose disposal. Dysregulated insulin signaling in the etiology of OCS has been suggested by a previous study describing a genetic overlap of OCS with insulin signaling-related traits in children and adolescents. We report a SNP heritability of 4.1% (P = 0.0044) in the meta-analyzed GWAS, and heritability estimates based on the twin cohorts of 33-43%. Genetic correlation analysis showed that OCS were most strongly associated with OCD (rG = 0.72, p = 0.0007) among all tested psychiatric disorders (N = 11). Of all 97 tested phenotypes, 24 showed a significant genetic correlation with OCS, and 66 traits showed concordant directions of effect with OCS and OCD. OCS have a significant polygenic contribution and share genetic risk with diagnosed OCD, supporting the hypothesis that OCD represents the extreme end of widely distributed OCS in the population.", "doi": "10.1038/s41380-024-02489-6", "pmid": "38548983", "labels": {"Bioinformatics Support for Computational Resources": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC11420085"}, {"db": "pii", "key": "10.1038/s41380-024-02489-6"}], "notes": [], "created": "2024-11-25T10:15:18.944Z", "modified": "2025-02-28T14:14:02.221Z"}, {"entity": "publication", "iuid": "5eb9ce6d678b47a8a7e86b5fe0b1e75c", "links": {"self": {"href": "https://publications.scilifelab.se/publication/5eb9ce6d678b47a8a7e86b5fe0b1e75c.json"}, "display": {"href": "https://publications.scilifelab.se/publication/5eb9ce6d678b47a8a7e86b5fe0b1e75c"}}, "title": "Rare tandem repeat expansions associate with genes involved in synaptic and neuronal signaling functions in schizophrenia.", "authors": [{"family": "Wen", "given": "Jia", "initials": "J"}, {"family": "Trost", "given": "Brett", "initials": "B", "orcid": "0000-0003-4863-7273", "researcher": {"href": "https://publications.scilifelab.se/researcher/f5d8ce778d624eef846a7b72bdf00f52.json"}}, {"family": "Engchuan", "given": "Worrawat", "initials": "W"}, {"family": "Halvorsen", "given": "Matthew", "initials": "M"}, {"family": "Pallotto", "given": "Linda M", "initials": "LM"}, {"family": "Mitina", "given": "Aleksandra", "initials": "A"}, {"family": "Ancalade", "given": "NaEshia", "initials": "N"}, {"family": "Farrell", "given": "Martilias", "initials": "M", "orcid": "0000-0002-9520-6209", "researcher": {"href": "https://publications.scilifelab.se/researcher/20be04f56c474537ad8fa07cb17241cf.json"}}, {"family": "Backstrom", "given": "Ian", "initials": "I", "orcid": "0000-0003-2203-540X", "researcher": {"href": "https://publications.scilifelab.se/researcher/d8473bd9fd724354a100af414ad1126e.json"}}, {"family": "Guo", "given": "Keyi", "initials": "K"}, {"family": "Pellecchia", "given": "Giovanna", "initials": "G", "orcid": "0000-0003-4747-3473", "researcher": {"href": "https://publications.scilifelab.se/researcher/c9f06138fd254a6fa35e81614a9d9ae9.json"}}, {"family": "Thiruvahindrapuram", "given": "Bhooma", "initials": "B", "orcid": "0000-0003-1128-008X", "researcher": {"href": "https://publications.scilifelab.se/researcher/f13d26ba0fac47d4a966f4189af223ec.json"}}, {"family": "Giusti-Rodriguez", "given": "Paola", "initials": "P"}, {"family": "Rosen", "given": "Jonathan David", "initials": "JD"}, {"family": "Li", "given": "Yun", "initials": "Y"}, {"family": "Won", "given": "Hyejung", "initials": "H", "orcid": "0000-0003-3651-0566", "researcher": {"href": "https://publications.scilifelab.se/researcher/ec02856f79674901b278a7c04b7ed8d8.json"}}, {"family": "Magnusson", "given": "Patrik K E", "initials": "PKE", "orcid": "0000-0002-7315-7899", "researcher": {"href": "https://publications.scilifelab.se/researcher/b277b6387de142bbab91fad82d9eff09.json"}}, {"family": "Gyllensten", "given": "Ulf", "initials": "U"}, {"family": "Bassett", "given": "Anne S", "initials": "AS", "orcid": "0000-0002-0681-7279", "researcher": {"href": "https://publications.scilifelab.se/researcher/4884004ffeb34bcfbe80536ae35ba668.json"}}, {"family": "Hultman", "given": "Christina M", "initials": "CM"}, {"family": "Sullivan", "given": "Patrick F", "initials": "PF"}, {"family": "Yuen", "given": "Ryan K C", "initials": "RKC", "orcid": "0000-0001-7273-4968", "researcher": {"href": "https://publications.scilifelab.se/researcher/a867c10748aa4c6ab8191fbfbe5757c9.json"}}, {"family": "Szatkiewicz", "given": "Jin P", "initials": "JP", "orcid": "0000-0002-4898-7401", "researcher": {"href": "https://publications.scilifelab.se/researcher/eb39edd3c6c14938a47f1e22ecfea080.json"}}], "type": "journal article", "published": "2023-01-00", "journal": {"title": "Mol. Psychiatry", "issn": "1476-5578", "issn-l": "1359-4184", "volume": "28", "issue": "1", "pages": "475-482"}, "abstract": "Tandem repeat expansions (TREs) are associated with over 60 monogenic disorders and have recently been implicated in complex disorders such as cancer and autism spectrum disorder. The role of TREs in schizophrenia is now emerging. In this study, we have performed a genome-wide investigation of TREs in schizophrenia. Using genome sequence data from 1154 Swedish schizophrenia cases and 934 ancestry-matched population controls, we have detected genome-wide rare (<0.1% population frequency) TREs that have motifs with a length of 2-20 base pairs. We find that the proportion of individuals carrying rare TREs is significantly higher in the schizophrenia group. There is a significantly higher burden of rare TREs in schizophrenia cases than in controls in genic regions, particularly in postsynaptic genes, in genes overlapping brain expression quantitative trait loci, and in brain-expressed genes that are differentially expressed between schizophrenia cases and controls. We demonstrate that TRE-associated genes are more constrained and primarily impact synaptic and neuronal signaling functions. These results have been replicated in an independent Canadian sample that consisted of 252 schizophrenia cases of European ancestry and 222 ancestry-matched controls. Our results support the involvement of rare TREs in schizophrenia etiology.", "doi": "10.1038/s41380-022-01857-4", "pmid": "36380236", "labels": {"NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "National Genomics Infrastructure": "Service", "NGI Stockholm (Genomics Production)": "Service", "NGI Short read": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC9812781"}, {"db": "pii", "key": "10.1038/s41380-022-01857-4"}], "notes": [], "created": "2022-11-29T12:28:58.891Z", "modified": "2023-10-16T12:47:55.341Z"}, {"entity": "publication", "iuid": "6c464b559eda4ee396f2d85812c247ce", "links": {"self": {"href": "https://publications.scilifelab.se/publication/6c464b559eda4ee396f2d85812c247ce.json"}, "display": {"href": "https://publications.scilifelab.se/publication/6c464b559eda4ee396f2d85812c247ce"}}, "title": "Proteins associated with future suicide attempts in bipolar disorder: A large-scale biomarker discovery study.", "authors": [{"family": "Sandberg", "given": "Johan V", "initials": "JV"}, {"family": "Hansson", "given": "Caroline", "initials": "C", "orcid": "0000-0001-6738-6495", "researcher": {"href": "https://publications.scilifelab.se/researcher/3f707f6560ae4e948196bf0f5abfa36f.json"}}, {"family": "G\u00f6teson", "given": "Andreas", "initials": "A", "orcid": "0000-0001-6118-6054", "researcher": {"href": "https://publications.scilifelab.se/researcher/ddb9372de0984261bce8b2ebdeee26ee.json"}}, {"family": "Joas", "given": "Erik", "initials": "E"}, {"family": "Jakobsson", "given": "Joel", "initials": "J"}, {"family": "P\u00e5lsson", "given": "Erik", "initials": "E"}, {"family": "Land\u00e9n", "given": "Mikael", "initials": "M", "orcid": "0000-0002-4496-6451", "researcher": {"href": "https://publications.scilifelab.se/researcher/792e2b8b8da94572a4d2815703d29749.json"}}], "type": "journal article", "published": "2022-09-00", "journal": {"title": "Mol. Psychiatry", "issn": "1476-5578", "volume": "27", "issue": "9", "pages": "3857-3863", "issn-l": "1359-4184"}, "abstract": "Suicide is a major cause of death worldwide. Several biological systems have been implicated in suicidal behavior but studies of candidate biomarkers have failed to produce clinically relevant biomarkers for suicide prediction. The objective of the present study was to identify novel candidate biomarkers for suicidal behavior. We used a nested case-control study design where a large cohort of patients with bipolar disorder (N = 5 110) were followed up to 8 years after blood sampling. We included patients that attempted suicide during follow-up (N = 348) and matched bipolar disorder patients from the same cohort who did not attempt suicide during the study period (N = 348) and analyzed a total of 92 proteins with a neuro exploratory multiplex panel. Using a multivariate classification algorithm devised to minimize bias in variable selection, we identified a parsimonious set of proteins that best discriminated bipolar disorder patients with and without prospective suicide attempts. The algorithm selected 16 proteins for the minimal-optimal classification model, which outperformed 500 models with permuted outcome (p = 0.0004) but had low sensitivity (53%) and specificity (64%). The candidate proteins were then entered in separate logistic regression models to calculate protein-specific associations with prospective suicide attempts. In individual analyses, three of these proteins were significantly associated with prospective suicide attempt (SCGB1A1, ANXA10, and CETN2). Most of the candidate proteins are novel to suicide research.", "doi": "10.1038/s41380-022-01648-x", "pmid": "35697758", "labels": {"Affinity Proteomics Uppsala": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC9708594"}, {"db": "pii", "key": "10.1038/s41380-022-01648-x"}], "notes": [], "created": "2023-11-29T19:12:55.344Z", "modified": "2023-11-29T19:12:55.395Z"}, {"entity": "publication", "iuid": "9df626ba4dd2425eb13ec942e2a40efc", "links": {"self": {"href": "https://publications.scilifelab.se/publication/9df626ba4dd2425eb13ec942e2a40efc.json"}, "display": {"href": "https://publications.scilifelab.se/publication/9df626ba4dd2425eb13ec942e2a40efc"}}, "title": "Cerebrospinal fluid proteomic study of two bipolar disorder cohorts.", "authors": [{"family": "Isgren", "given": "Anniella", "initials": "A", "orcid": "0000-0003-1901-6988", "researcher": {"href": "https://publications.scilifelab.se/researcher/07b132c4700745a695ddb6a3ce946e9d.json"}}, {"family": "G\u00f6teson", "given": "Andreas", "initials": "A", "orcid": "0000-0001-6118-6054", "researcher": {"href": "https://publications.scilifelab.se/researcher/ddb9372de0984261bce8b2ebdeee26ee.json"}}, {"family": "Holm\u00e9n-Larsson", "given": "Jessica", "initials": "J"}, {"family": "Pelanis", "given": "Aurimantas", "initials": "A"}, {"family": "Sellgren", "given": "Carl", "initials": "C"}, {"family": "Joas", "given": "Erik", "initials": "E"}, {"family": "Sparding", "given": "Timea", "initials": "T"}, {"family": "Zetterberg", "given": "Henrik", "initials": "H", "orcid": "0000-0003-3930-4354", "researcher": {"href": "https://publications.scilifelab.se/researcher/85efee74eb4a4b38b63cf2823d204529.json"}}, {"family": "Smedler", "given": "Erik", "initials": "E"}, {"family": "Jakobsson", "given": "Joel", "initials": "J"}, {"family": "Land\u00e9n", "given": "Mikael", "initials": "M", "orcid": "0000-0002-4496-6451", "researcher": {"href": "https://publications.scilifelab.se/researcher/792e2b8b8da94572a4d2815703d29749.json"}}], "type": "journal article", "published": "2022-08-19", "journal": {"title": "Mol. Psychiatry", "issn": "1476-5578", "issn-l": "1359-4184"}, "abstract": "The pathophysiology of bipolar disorder remains to be elucidated and there are no diagnostic or prognostic biomarkers for the condition. In this explorative proteomic study, we analyzed 201 proteins in cerebrospinal fluid (CSF) from mood stable bipolar disorder patients and control subjects sampled from two independent cohorts, amounting to a total of 204 patients and 144 controls. We used three Olink Multiplex panels, whereof one specifically targets immune biomarkers, to assess a broad set of CSF protein concentrations. After quality control and removal of proteins with a low detection rate, 105 proteins remained for analyses in relation to case-control status and clinical variables. Only case-control differences that replicated across cohorts were considered. Results adjusted for potential confounders showed that CSF concentrations of growth hormone were lower in bipolar disorder compared with controls in both cohorts. The effect size was larger when the analysis was restricted to bipolar disorder type 1 and controls. We found no indications of immune activation or other aberrations. Growth hormone exerts many effects in the central nervous system and our findings suggest that growth hormone might be implicated in the pathophysiology of bipolar disorder.", "doi": "10.1038/s41380-022-01724-2", "pmid": "35986174", "labels": {"Affinity Proteomics Uppsala": "Service"}, "xrefs": [{"db": "pii", "key": "10.1038/s41380-022-01724-2"}], "notes": [], "created": "2022-12-02T08:47:01.362Z", "modified": "2022-12-02T08:47:01.486Z"}, {"entity": "publication", "iuid": "ce17f3a9d09243a5991a765d05d88a73", "links": {"self": {"href": "https://publications.scilifelab.se/publication/ce17f3a9d09243a5991a765d05d88a73.json"}, "display": {"href": "https://publications.scilifelab.se/publication/ce17f3a9d09243a5991a765d05d88a73"}}, "title": "Cerebrospinal fluid proteomics targeted for central nervous system processes in bipolar disorder.", "authors": [{"family": "G\u00f6teson", "given": "Andreas", "initials": "A", "orcid": "0000-0001-6118-6054", "researcher": {"href": "https://publications.scilifelab.se/researcher/ddb9372de0984261bce8b2ebdeee26ee.json"}}, {"family": "Isgren", "given": "Anniella", "initials": "A"}, {"family": "Jonsson", "given": "Lina", "initials": "L"}, {"family": "Sparding", "given": "Timea", "initials": "T"}, {"family": "Smedler", "given": "Erik", "initials": "E"}, {"family": "Pelanis", "given": "Aurimantas", "initials": "A"}, {"family": "Zetterberg", "given": "Henrik", "initials": "H", "orcid": "0000-0003-3930-4354", "researcher": {"href": "https://publications.scilifelab.se/researcher/85efee74eb4a4b38b63cf2823d204529.json"}}, {"family": "Jakobsson", "given": "Joel", "initials": "J"}, {"family": "P\u00e5lsson", "given": "Erik", "initials": "E"}, {"family": "Holm\u00e9n-Larsson", "given": "Jessica", "initials": "J"}, {"family": "Land\u00e9n", "given": "Mikael", "initials": "M", "orcid": "0000-0002-4496-6451", "researcher": {"href": "https://publications.scilifelab.se/researcher/792e2b8b8da94572a4d2815703d29749.json"}}], "type": "journal article", "published": "2021-12-00", "journal": {"title": "Mol. Psychiatry", "issn": "1476-5578", "volume": "26", "issue": "12", "pages": "7446-7453", "issn-l": "1359-4184"}, "abstract": "The etiopathology of bipolar disorder is largely unknown. We collected cerebrospinal fluid (CSF) samples from two independent case-control cohorts (total n = 351) to identify proteins associated with bipolar disorder. A panel of 92 proteins targeted towards central nervous system processes identified two proteins that replicated across the cohorts: the CSF concentrations of testican-1 were lower, and the CSF concentrations of C-type lectin domain family 1 member B (CLEC1B) were higher, in cases than controls. In a restricted subgroup analysis, we compared only bipolar type 1 with controls and identified two additional proteins that replicated in both cohorts: draxin and tumor necrosis factor receptor superfamily member 21 (TNFRSF21), both lower in cases than controls. This analysis additionally revealed several proteins significantly associated with bipolar type 1 in one cohort, falling just short of replicated statistical significance in the other (tenascin-R, disintegrin and metalloproteinase domain-containing protein 23, cell adhesion molecule 3, RGM domain family member B, plexin-B1, and brorin). Next, we conducted genome-wide association analyses of the case-control-associated proteins. In these analyses, we found associations with the voltage-gated calcium channel subunit CACNG4, and the lipid-droplet-associated gene PLIN5 with CSF concentrations of TNFRSF21 and CLEC1B, respectively. The reported proteins are involved in neuronal cell-cell and cell-matrix interactions, particularly in the developing brain, and in pathways of importance for lithium's mechanism of action. In summary, we report four novel CSF protein associations with bipolar disorder that replicated in two independent case-control cohorts, shedding new light on the central nervous system processes implicated in bipolar disorder.", "doi": "10.1038/s41380-021-01236-5", "pmid": "34349225", "labels": {"Affinity Proteomics Uppsala": "Service"}, "xrefs": [{"db": "pii", "key": "10.1038/s41380-021-01236-5"}], "notes": [], "created": "2021-12-10T09:06:20.729Z", "modified": "2022-12-02T08:56:13.821Z"}, {"entity": "publication", "iuid": "374a9ca3be9f4190b84efde8e03ff7fb", "links": {"self": {"href": "https://publications.scilifelab.se/publication/374a9ca3be9f4190b84efde8e03ff7fb.json"}, "display": {"href": "https://publications.scilifelab.se/publication/374a9ca3be9f4190b84efde8e03ff7fb"}}, "title": "Neuropharmacokinetic visualization of regional and subregional unbound antipsychotic drug transport across the blood-brain barrier.", "authors": [{"family": "Lupt\u00e1kov\u00e1", "given": "Dominika", "initials": "D"}, {"family": "Vallianatou", "given": "Theodosia", "initials": "T", "orcid": "0000-0002-1477-7756", "researcher": {"href": "https://publications.scilifelab.se/researcher/ae610b7669754328a119654fdfcd6af4.json"}}, {"family": "Nilsson", "given": "Anna", "initials": "A"}, {"family": "Shariatgorji", "given": "Reza", "initials": "R", "orcid": "0000-0001-9484-0921", "researcher": {"href": "https://publications.scilifelab.se/researcher/7762e9f6779c4780a4077c557eb7a3b6.json"}}, {"family": "Hammarlund-Udenaes", "given": "Margareta", "initials": "M"}, {"family": "Loryan", "given": "Irena", "initials": "I", "orcid": "0000-0002-1557-4416", "researcher": {"href": "https://publications.scilifelab.se/researcher/63688cf99e7448b792734ebf77afef32.json"}}, {"family": "Andr\u00e9n", "given": "Per E", "initials": "PE", "orcid": "0000-0002-4062-7743", "researcher": {"href": "https://publications.scilifelab.se/researcher/64f6381de42949db8d30b56b526f3e26.json"}}], "type": "journal article", "published": "2021-09-03", "journal": {"title": "Mol. Psychiatry", "issn": "1476-5578", "issn-l": "1359-4184"}, "abstract": "Comprehensive determination of the extent of drug transport across the region-specific blood-brain barrier (BBB) is a major challenge in preclinical studies. Multiple approaches are needed to determine the regional free (unbound) drug concentration at which a drug engages with its therapeutic target. We present an approach that merges in vivo and in vitro neuropharmacokinetic investigations with mass spectrometry imaging to quantify and visualize both the extent of unbound drug BBB transport and the post-BBB cerebral distribution of drugs at regional and subregional levels. Direct imaging of the antipsychotic drugs risperidone, clozapine, and olanzapine using this approach enabled differentiation of regional and subregional BBB transport characteristics at 20-\u00b5m resolution in small brain regions, which could not be achieved by other means. Our approach allows investigation of heterogeneity in BBB transport and presents new possibilities for molecular psychiatrists by facilitating interpretation of regional target-site exposure results and decision-making.", "doi": "10.1038/s41380-021-01267-y", "pmid": "34480089", "labels": {"Spatial Mass Spectrometry": "Technology development"}, "xrefs": [{"db": "pii", "key": "10.1038/s41380-021-01267-y"}], "notes": [], "created": "2021-12-03T11:46:46.876Z", "modified": "2021-12-03T11:46:46.965Z"}, {"entity": "publication", "iuid": "3781a12ed3544fa9b3e1a2daa02dc54b", "links": {"self": {"href": "https://publications.scilifelab.se/publication/3781a12ed3544fa9b3e1a2daa02dc54b.json"}, "display": {"href": "https://publications.scilifelab.se/publication/3781a12ed3544fa9b3e1a2daa02dc54b"}}, "title": "DNA methylation signatures of aggression and closely related constructs: A meta-analysis of epigenome-wide studies across the lifespan.", "authors": [{"family": "van Dongen", "given": "Jenny", "initials": "J", "orcid": "0000-0003-2063-8741", "researcher": {"href": "https://publications.scilifelab.se/researcher/fc28125d1b68438ea1a419437ad335c9.json"}}, {"family": "Hagenbeek", "given": "Fiona A", "initials": "FA", "orcid": "0000-0002-8773-0430", "researcher": {"href": "https://publications.scilifelab.se/researcher/1874bbcb93ed4633879199558ae54877.json"}}, {"family": "Suderman", "given": "Matthew", "initials": "M"}, {"family": "Roetman", "given": "Peter J", "initials": "PJ", "orcid": "0000-0002-6495-962X", "researcher": {"href": "https://publications.scilifelab.se/researcher/bd0b47e8144d4b0ab0c3bad505a1636f.json"}}, {"family": "Sugden", "given": "Karen", "initials": "K"}, {"family": "Chiocchetti", "given": "Andreas G", "initials": "AG", "orcid": "0000-0002-7329-9985", "researcher": {"href": "https://publications.scilifelab.se/researcher/b90b3aecf61a44f090e0511a52b0ebec.json"}}, {"family": "Ismail", "given": "Khadeeja", "initials": "K", "orcid": "0000-0003-0334-6480", 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"orcid": "0000-0003-1949-2298", "researcher": {"href": "https://publications.scilifelab.se/researcher/e9276827839a4f3cb50dcaa2ad4708a5.json"}}, {"family": "Witt", "given": "Stephanie H", "initials": "SH", "orcid": "0000-0002-1571-1468", "researcher": {"href": "https://publications.scilifelab.se/researcher/88c8da59196f4adb8a57509e5e9e85ef.json"}}, {"family": "Deuschle", "given": "Michael", "initials": "M"}, {"family": "Pedersen", "given": "Nancy L", "initials": "NL"}, {"family": "H\u00e4gg", "given": "Sara", "initials": "S", "orcid": "0000-0002-2452-1500", "researcher": {"href": "https://publications.scilifelab.se/researcher/e1d010dfe5d84a33b6a6c7ec815ca3dc.json"}}, {"family": "Sunyer", "given": "Jordi", "initials": "J"}, {"family": "Franke", "given": "Lude", "initials": "L"}, {"family": "Kaprio", "given": "Jaakko", "initials": "J", "orcid": "0000-0002-3716-2455", "researcher": {"href": "https://publications.scilifelab.se/researcher/814d362333844b72a70cba9ebcf61e6f.json"}}, {"family": "Ollikainen", "given": "Miina", "initials": "M", "orcid": "0000-0003-3661-7400", "researcher": {"href": "https://publications.scilifelab.se/researcher/0cda8a90eedd4d179a230bc5377d3989.json"}}, {"family": "Moffitt", "given": "Terrie E", "initials": "TE"}, {"family": "Tiemeier", "given": "Henning", "initials": "H", "orcid": "0000-0002-4395-1397", "researcher": {"href": "https://publications.scilifelab.se/researcher/73e05bd74af344ba8d963463f49bb242.json"}}, {"family": "van IJzendoorn", "given": "Marinus H", "initials": "MH", "orcid": "0000-0003-1144-454X", "researcher": {"href": "https://publications.scilifelab.se/researcher/d8ae6deb331f4c52b835210f42c65abe.json"}}, {"family": "Relton", "given": "Caroline", "initials": "C"}, {"family": "Vrijheid", "given": "Martine", "initials": "M", "orcid": "0000-0002-7090-1758", "researcher": {"href": "https://publications.scilifelab.se/researcher/ccf0ebb5d1664b99bbb460c194d2f361.json"}}, {"family": "Sebert", "given": "Sylvain", "initials": "S", "orcid": "0000-0001-6681-6983", "researcher": {"href": "https://publications.scilifelab.se/researcher/c007e85f69d4421bb6cf76dc52a01eb8.json"}}, {"family": "Jarvelin", "given": "Marjo-Riitta", "initials": "M"}, {"family": "Caspi", "given": "Avshalom", "initials": "A"}, {"family": "Evans", "given": "Kathryn L", "initials": "KL", "orcid": "0000-0002-7884-5877", "researcher": {"href": "https://publications.scilifelab.se/researcher/2985078354be4ab19f96d66fa9b2c8cc.json"}}, {"family": "McIntosh", "given": "Andrew M", "initials": "AM", "orcid": "0000-0002-0198-4588", "researcher": {"href": "https://publications.scilifelab.se/researcher/cbac1cee97084746b97442ec39efe91b.json"}}, {"family": "Bartels", "given": "Meike", "initials": "M", "orcid": "0000-0002-9667-7555", "researcher": {"href": "https://publications.scilifelab.se/researcher/8a91c095e993411b99e81e21f40d8597.json"}}, {"family": "Boomsma", "given": "Dorret I", "initials": "DI", "orcid": "0000-0002-7099-7972", "researcher": {"href": "https://publications.scilifelab.se/researcher/4b66ab2525fd4a468e7a4ad14c955cb4.json"}}], "type": "journal article", "published": "2021-06-00", "journal": {"title": "Mol. Psychiatry", "issn": "1476-5578", "issn-l": "1359-4184", "volume": "26", "issue": "6", "pages": "2148-2162"}, "abstract": "DNA methylation profiles of aggressive behavior may capture lifetime cumulative effects of genetic, stochastic, and environmental influences associated with aggression. Here, we report the first large meta-analysis of epigenome-wide association studies (EWAS) of aggressive behavior (N = 15,324 participants). In peripheral blood samples of 14,434 participants from 18 cohorts with mean ages ranging from 7 to 68 years, 13 methylation sites were significantly associated with aggression (alpha = 1.2 \u00d7 10-7; Bonferroni correction). In cord blood samples of 2425 children from five cohorts with aggression assessed at mean ages ranging from 4 to 7 years, 83% of these sites showed the same direction of association with childhood aggression (r = 0.74, p = 0.006) but no epigenome-wide significant sites were found. Top-sites (48 at a false discovery rate of 5% in the peripheral blood meta-analysis or in a combined meta-analysis of peripheral blood and cord blood) have been associated with chemical exposures, smoking, cognition, metabolic traits, and genetic variation (mQTLs). Three genes whose expression levels were associated with top-sites were previously linked to schizophrenia and general risk tolerance. At six CpGs, DNA methylation variation in blood mirrors variation in the brain. On average 44% (range = 3-82%) of the aggression-methylation association was explained by current and former smoking and BMI. These findings point at loci that are sensitive to chemical exposures with potential implications for neuronal functions. We hope these results to be a starting point for studies leading to applications as peripheral biomarkers and to reveal causal relationships with aggression and related traits.", "doi": "10.1038/s41380-020-00987-x", "pmid": "33420481", "labels": {"NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "National Genomics Infrastructure": "Service"}, "xrefs": [{"db": "pii", "key": "10.1038/s41380-020-00987-x"}, {"db": "pmc", "key": "PMC8263810"}, {"db": "mid", "key": "EMS114691"}], "notes": [], "created": "2021-01-14T11:58:55.708Z", "modified": "2021-12-07T13:43:00.672Z"}, {"entity": "publication", "iuid": "e34ef08163944754a2a4a119c7fdfafa", "links": {"self": {"href": "https://publications.scilifelab.se/publication/e34ef08163944754a2a4a119c7fdfafa.json"}, "display": {"href": "https://publications.scilifelab.se/publication/e34ef08163944754a2a4a119c7fdfafa"}}, "title": "Gene-educational attainment interactions in a multi-ancestry genome-wide meta-analysis identify novel blood pressure loci.", "authors": [{"family": "de Las Fuentes", "given": "Lisa", "initials": "L", "orcid": "0000-0002-4689-325X", "researcher": {"href": "https://publications.scilifelab.se/researcher/87256c304d2f400d99b5a080aeed9185.json"}}, {"family": "Sung", "given": "Yun Ju", "initials": "YJ"}, {"family": "Noordam", "given": "Raymond", "initials": "R"}, {"family": "Winkler", "given": "Thomas", "initials": "T"}, {"family": "Feitosa", "given": "Mary F", "initials": "MF", "orcid": "0000-0002-0933-2410", "researcher": {"href": "https://publications.scilifelab.se/researcher/6e386c235834430eafaaca06e312aeb8.json"}}, {"family": "Schwander", "given": "Karen", "initials": "K"}, {"family": "Bentley", "given": "Amy R", "initials": "AR", "orcid": "0000-0002-0827-9101", "researcher": {"href": "https://publications.scilifelab.se/researcher/da79fd53be004c09b1ff6c81d1fb709c.json"}}, {"family": "Brown", "given": "Michael R", "initials": "MR"}, {"family": "Guo", "given": "Xiuqing", "initials": "X"}, {"family": 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{"family": "Morrison", "given": "Alanna C", "initials": "AC"}, {"family": "North", "given": "Kari E", "initials": "KE"}, {"family": "Kardia", "given": "Sharon L R", "initials": "SLR"}, {"family": "Caulfield", "given": "Mark J", "initials": "MJ", "orcid": "0000-0001-9295-3594", "researcher": {"href": "https://publications.scilifelab.se/researcher/cc848c0cb6904712ad6b48c2058770f5.json"}}, {"family": "Elliott", "given": "Paul", "initials": "P"}, {"family": "Munroe", "given": "Patricia B", "initials": "PB"}, {"family": "Franks", "given": "Paul W", "initials": "PW"}, {"family": "Rao", "given": "Dabeeru C", "initials": "DC"}, {"family": "Fornage", "given": "Myriam", "initials": "M"}], "type": "journal article", "published": "2021-06-00", "journal": {"title": "Mol. Psychiatry", "issn": "1476-5578", "issn-l": "1359-4184", "volume": "26", "issue": "6", "pages": "2111-2125"}, "abstract": "Educational attainment is widely used as a surrogate for socioeconomic status (SES). Low SES is a risk factor for hypertension and high blood pressure (BP). To identify novel BP loci, we performed multi-ancestry meta-analyses accounting for gene-educational attainment interactions using two variables, \"Some College\" (yes/no) and \"Graduated College\" (yes/no). Interactions were evaluated using both a 1 degree of freedom (DF) interaction term and a 2DF joint test of genetic and interaction effects. Analyses were performed for systolic BP, diastolic BP, mean arterial pressure, and pulse pressure. We pursued genome-wide interrogation in Stage 1 studies (N = 117 438) and follow-up on promising variants in Stage 2 studies (N = 293 787) in five ancestry groups. Through combined meta-analyses of Stages 1 and 2, we identified 84 known and 18 novel BP loci at genome-wide significance level (P < 5 \u00d7 10-8). Two novel loci were identified based on the 1DF test of interaction with educational attainment, while the remaining 16 loci were identified through the 2DF joint test of genetic and interaction effects. Ten novel loci were identified in individuals of African ancestry. Several novel loci show strong biological plausibility since they involve physiologic systems implicated in BP regulation. They include genes involved in the central nervous system-adrenal signaling axis (ZDHHC17, CADPS, PIK3C2G), vascular structure and function (GNB3, CDON), and renal function (HAS2 and HAS2-AS1, SLIT3). Collectively, these findings suggest a role of educational attainment or SES in further dissection of the genetic architecture of BP.", "doi": "10.1038/s41380-020-0719-3", "pmid": "32372009", "labels": {"NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "National Genomics Infrastructure": "Service"}, "xrefs": [{"db": "pii", "key": "10.1038/s41380-020-0719-3"}, {"db": "pmc", "key": "PMC7641978"}, {"db": "mid", "key": "NIHMS1579455"}], "notes": [], "created": "2021-01-07T17:01:46.378Z", "modified": "2021-12-07T13:40:35.407Z"}, {"entity": "publication", "iuid": "8fefd871b5d64a629a618eeb2a501689", "links": {"self": {"href": "https://publications.scilifelab.se/publication/8fefd871b5d64a629a618eeb2a501689.json"}, "display": {"href": "https://publications.scilifelab.se/publication/8fefd871b5d64a629a618eeb2a501689"}}, "title": "Epigenome-wide meta-analysis of blood DNA methylation and its association with subcortical volumes: findings from the ENIGMA Epigenetics Working Group.", "authors": [{"family": "Jia", "given": "Tianye", "initials": "T"}, {"family": "Chu", "given": "Congying", "initials": "C"}, {"family": "Liu", "given": "Yun", "initials": "Y"}, {"family": "van Dongen", "given": "Jenny", "initials": "J"}, {"family": "Papastergios", "given": "Evangelos", "initials": "E"}, {"family": "Armstrong", "given": "Nicola J", "initials": "NJ"}, {"family": "Bastin", "given": "Mark E", "initials": "ME"}, {"family": "Carrillo-Roa", "given": "Tania", "initials": "T"}, {"family": "den Braber", "given": "Anouk", "initials": "A"}, {"family": "Harris", "given": "Mathew", "initials": "M"}, {"family": "Jansen", "given": "Rick", "initials": "R"}, {"family": "Liu", "given": "Jingyu", "initials": "J"}, {"family": "Luciano", "given": "Michelle", "initials": "M"}, {"family": "Ori", "given": "Anil P S", "initials": "APS"}, {"family": "Roiz Santia\u00f1ez", "given": "Roberto", "initials": "R"}, {"family": "Ruggeri", "given": "Barbara", "initials": "B"}, {"family": "Sarkisyan", "given": "Daniil", "initials": "D"}, {"family": "Shin", "given": "Jean", "initials": "J"}, {"family": "Sungeun", "given": "Kim", "initials": "K"}, {"family": "Tordesillas Guti\u00e9rrez", "given": "Diana", "initials": "D"}, {"family": "Van't Ent", "given": "Dennis", "initials": "D"}, {"family": "Ames", "given": "David", "initials": "D"}, {"family": "Artiges", "given": "Eric", "initials": "E"}, {"family": "Bakalkin", "given": "Georgy", "initials": "G"}, {"family": "Banaschewski", "given": "Tobias", "initials": "T"}, {"family": "Bokde", "given": "Arun L W", "initials": "ALW"}, {"family": "Brodaty", "given": "Henry", "initials": "H"}, {"family": "Bromberg", "given": "Uli", "initials": "U"}, {"family": "Brouwer", "given": "Rachel", "initials": "R"}, {"family": "B\u00fcchel", "given": "Christian", "initials": "C"}, {"family": "Burke Quinlan", "given": "Erin", "initials": "E"}, {"family": "Cahn", "given": "Wiepke", "initials": "W"}, {"family": "de Zubicaray", "given": "Greig I", "initials": "GI"}, {"family": "Ehrlich", "given": "Stefan", "initials": "S"}, {"family": "Ekstr\u00f6m", "given": "Tomas J", "initials": "TJ"}, {"family": "Flor", "given": "Herta", "initials": "H"}, {"family": "Fr\u00f6hner", "given": "Juliane H", "initials": "JH"}, {"family": "Frouin", "given": "Vincent", "initials": "V"}, {"family": "Garavan", "given": "Hugh", "initials": "H"}, {"family": "Gowland", "given": "Penny", "initials": "P"}, {"family": "Heinz", "given": "Andreas", "initials": "A"}, {"family": "Hoare", "given": "Jacqueline", "initials": "J"}, {"family": "Ittermann", "given": "Bernd", "initials": "B"}, {"family": "Jahanshad", "given": "Neda", "initials": "N"}, {"family": "Jiang", "given": "Jiyang", "initials": "J"}, {"family": "Kwok", "given": "John B", "initials": "JB"}, {"family": "Martin", "given": "Nicholas G", "initials": "NG"}, {"family": "Martinot", "given": "Jean-Luc", "initials": "JL"}, {"family": "Mather", "given": "Karen A", "initials": "KA"}, {"family": "McMahon", "given": "Katie L", "initials": "KL"}, {"family": "McRae", "given": "Allan F", "initials": "AF"}, {"family": "Nees", "given": "Frauke", "initials": "F"}, {"family": "Papadopoulos Orfanos", "given": "Dimitri", "initials": "D"}, {"family": "Paus", "given": "Tom\u00e1\u0161", "initials": "T"}, {"family": "Poustka", "given": "Luise", "initials": "L"}, {"family": "S\u00e4mann", "given": "Philipp G", "initials": "PG"}, {"family": "Schofield", "given": "Peter R", "initials": "PR"}, {"family": "Smolka", "given": "Michael N", "initials": "MN"}, {"family": "Stein", "given": "Dan J", "initials": "DJ"}, {"family": "Strike", "given": "Lachlan T", "initials": "LT"}, {"family": "Teeuw", "given": "Jalmar", "initials": "J"}, {"family": "Thalamuthu", "given": "Anbupalam", "initials": "A"}, {"family": "Trollor", "given": "Julian", "initials": "J"}, {"family": "Walter", "given": "Henrik", "initials": "H"}, {"family": "Wardlaw", "given": "Joanna M", "initials": "JM"}, {"family": "Wen", "given": "Wei", "initials": "W"}, {"family": "Whelan", "given": "Robert", "initials": "R"}, {"family": "Apostolova", "given": "Liana G", "initials": "LG"}, {"family": "Binder", "given": "Elisabeth B", "initials": "EB"}, {"family": "Boomsma", "given": "Dorret I", "initials": "DI"}, {"family": "Calhoun", "given": "Vince", "initials": "V"}, {"family": "Crespo-Facorro", "given": "Benedicto", "initials": "B"}, {"family": "Deary", "given": "Ian J", "initials": "IJ"}, {"family": "Hulshoff Pol", "given": "Hilleke", "initials": "H"}, {"family": "Ophoff", "given": "Roel A", "initials": "RA"}, {"family": "Pausova", "given": "Zdenka", "initials": "Z"}, {"family": "Sachdev", "given": "Perminder S", "initials": "PS"}, {"family": "Saykin", "given": "Andrew", "initials": "A"}, {"family": "Wright", "given": "Margaret J", "initials": "MJ"}, {"family": "Thompson", "given": "Paul M", "initials": "PM"}, {"family": "Schumann", "given": "Gunter", "initials": "G"}, {"family": "Desrivi\u00e8res", "given": "Sylvane", "initials": "S"}], "type": "journal article", "published": "2019-12-06", "journal": {"volume": null, "issn": "1476-5578", "issue": null, "title": "Mol. Psychiatry", "issn-l": "1359-4184"}, "abstract": "DNA methylation, which is modulated by both genetic factors and environmental exposures, may offer a unique opportunity to discover novel biomarkers of disease-related brain phenotypes, even when measured in other tissues than brain, such as blood. A few studies of small sample sizes have revealed associations between blood DNA methylation and neuropsychopathology, however, large-scale epigenome-wide association studies (EWAS) are needed to investigate the utility of DNA methylation profiling as a peripheral marker for the brain. Here, in an analysis of eleven international cohorts, totalling 3337 individuals, we report epigenome-wide meta-analyses of blood DNA methylation with volumes of the hippocampus, thalamus and nucleus accumbens (NAcc)-three subcortical regions selected for their associations with disease and heritability and volumetric variability. Analyses of individual CpGs revealed genome-wide significant associations with hippocampal volume at two loci. No significant associations were found for analyses of thalamus and nucleus accumbens volumes. Cluster-based analyses revealed additional differentially methylated regions (DMRs) associated with hippocampal volume. DNA methylation at these loci affected expression of proximal genes involved in learning and memory, stem cell maintenance and differentiation, fatty acid metabolism and type-2 diabetes. These DNA methylation marks, their interaction with genetic variants and their impact on gene expression offer new insights into the relationship between epigenetic variation and brain structure and may provide the basis for biomarker discovery in neurodegeneration and neuropsychiatric conditions.", "doi": "10.1038/s41380-019-0605-z", "pmid": "31811260", "labels": {"National Genomics Infrastructure": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "Bioinformatics Support for Computational Resources": "Service"}, "xrefs": [{"db": "pii", "key": "10.1038/s41380-019-0605-z"}], "notes": [], "created": "2019-12-18T16:32:06.247Z", "modified": "2024-01-16T13:48:43.316Z"}, {"entity": "publication", "iuid": "9636a3d2b2d54eaaa019ac0da7105d74", "links": {"self": {"href": "https://publications.scilifelab.se/publication/9636a3d2b2d54eaaa019ac0da7105d74.json"}, "display": {"href": "https://publications.scilifelab.se/publication/9636a3d2b2d54eaaa019ac0da7105d74"}}, "title": "Genotype-dependent epigenetic regulation of DLGAP2 in alcohol use and dependence.", "authors": [{"family": "Meng", "given": "Weida", "initials": "W"}, {"family": "Sj\u00f6holm", "given": "Louise K", "initials": "LK"}, {"family": "Kononenko", "given": "Olga", "initials": "O"}, {"family": "Tay", "given": "Nicole", "initials": "N"}, {"family": "Zhang", "given": "Dandan", "initials": "D"}, {"family": "Sarkisyan", "given": "Daniil", "initials": "D"}, {"family": "Geske", "given": "Jennifer R", "initials": "JR"}, {"family": "Ing", "given": "Alex", "initials": "A"}, {"family": "Qiu", "given": "Wenqing", "initials": "W"}, {"family": "Watanabe", "given": "Hiroyuki", "initials": "H"}, {"family": "Almamoun", "given": "Radwa", "initials": "R"}, {"family": "Frieling", "given": "Helge", "initials": "H"}, {"family": "Bleich", "given": "Stefan", "initials": "S"}, {"family": "Cui", "given": "Donghong", "initials": "D"}, {"family": "Biernacka", "given": "Joanna M", "initials": "JM"}, {"family": "Mayfield", "given": "R Dayne", "initials": "RD"}, {"family": "Dang", "given": "Yongjun", "initials": "Y"}, {"family": "Karpyak", "given": "Victor M", "initials": "VM"}, {"family": "Schumann", "given": "Gunter", "initials": "G"}, {"family": "IMAGEN Consortium", "given": "", "initials": ""}, {"family": "Bakalkin", "given": "Georgy", "initials": "G"}, {"family": "Ekstr\u00f6m", "given": "Tomas J", "initials": "TJ"}, {"family": "R\u00fcegg", "given": "Joelle", "initials": "J"}, {"family": "Liu", "given": "Yun", "initials": "Y"}], "type": "journal article", "published": "2019-11-19", "journal": {"volume": null, "issn": "1476-5578", "issue": null, "title": "Mol. Psychiatry", "issn-l": "1359-4184"}, "abstract": "Alcohol misuse is a major public health problem originating from genetic and environmental risk factors. Alterations in the brain epigenome may orchestrate changes in gene expression that lead to alcohol misuse and dependence. Through epigenome-wide association analysis of DNA methylation from human brain tissues, we identified a differentially methylated region, DMR-DLGAP2, associated with alcohol dependence. Methylation within DMR-DLGAP2 was found to be genotype-dependent, allele-specific and associated with reward processing in brain. Methylation at the DMR-DLGAP2 regulated expression of DLGAP2 in vitro, and Dlgap2-deficient mice showed reduced alcohol consumption compared with wild-type controls. These results suggest that DLGAP2 may be an interface for genetic and epigenetic factors controlling alcohol use and dependence.", "doi": "10.1038/s41380-019-0588-9", "pmid": "31745236", "labels": {"National Genomics Infrastructure": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "Bioinformatics Support for Computational Resources": "Service"}, "xrefs": [{"db": "pii", "key": "10.1038/s41380-019-0588-9"}], "notes": [], "created": "2019-11-28T07:41:32.986Z", "modified": "2024-01-16T13:48:43.518Z"}, {"entity": "publication", "iuid": "3441bbe4bc7b42078a3475a299853b75", "links": {"self": {"href": "https://publications.scilifelab.se/publication/3441bbe4bc7b42078a3475a299853b75.json"}, "display": {"href": "https://publications.scilifelab.se/publication/3441bbe4bc7b42078a3475a299853b75"}}, "title": "Lithium treatment reverses irradiation-induced changes in rodent neural progenitors and rescues cognition.", "authors": [{"family": "Zanni", "given": "Giulia", "initials": "G"}, {"family": "Goto", "given": "Shinobu", "initials": "S"}, {"family": "Fragopoulou", "given": "Adamantia F", "initials": "AF"}, {"family": "Gaudenzi", "given": "Giulia", "initials": "G"}, {"family": "Naidoo", "given": "Vinogran", "initials": "V"}, {"family": "Di Martino", "given": "Elena", "initials": "E"}, {"family": "Levy", "given": "Gabriel", "initials": "G"}, {"family": "Dominguez", "given": "Cecilia A", "initials": "CA"}, {"family": "Dethlefsen", "given": "Olga", "initials": "O"}, {"family": "Cedazo-Minguez", "given": "Angel", "initials": "A"}, {"family": "Merino-Serrais", "given": "Paula", "initials": "P"}, {"family": "Stamatakis", "given": "Antonios", "initials": "A"}, {"family": "Hermanson", "given": "Ola", "initials": "O"}, {"family": "Blomgren", "given": "Klas", "initials": "K"}], "type": "journal article", "published": "2019-11-14", "journal": {"volume": null, "issn": "1476-5578", "issue": null, "pages": null, "title": "Mol. Psychiatry", "issn-l": "1359-4184"}, "abstract": "Cranial radiotherapy in children has detrimental effects on cognition, mood, and social competence in young cancer survivors. Treatments harnessing hippocampal neurogenesis are currently of great relevance in this context. Lithium, a well-known mood stabilizer, has both neuroprotective, pro-neurogenic as well as antitumor effects, and in the current study we introduced lithium treatment 4 weeks after irradiation. Female mice received a single 4 Gy whole-brain radiation dose on postnatal day (PND) 21 and were randomized to 0.24% Li2CO 3 chow or normal chow from PND 49 to 77. Hippocampal neurogenesis was assessed on PND 77, 91, and 105. We found that lithium treatment had a pro-proliferative effect on neural progenitors, but neuronal integration occurred only after it was discontinued. Also, the treatment ameliorated deficits in spatial learning and memory retention observed in irradiated mice. Gene expression profiling and DNA methylation analysis identified two novel factors related to the observed effects, Tppp, associated with microtubule stabilization, and GAD2/65, associated with neuronal signaling. Our results show that lithium treatment reverses irradiation-induced loss of hippocampal neurogenesis and cognitive impairment even when introduced long after the injury. We propose that lithium treatment should be intermittent in order to first make neural progenitors proliferate and then, upon discontinuation, allow them to differentiate. Our findings suggest that pharmacological treatment of cognitive so-called late effects in childhood cancer survivors is possible.", "doi": "10.1038/s41380-019-0584-0", "pmid": "31723242", "labels": {"Bioinformatics Support, Infrastructure and Training": "Collaborative", "Bioinformatics Support and Infrastructure": "Collaborative", "NGI Stockholm (Genomics Production)": "Service", "National Genomics Infrastructure": "Service", "NGI Stockholm (Genomics Applications)": "Service", "Bioinformatics Support for Computational Resources": "Service", "Bioinformatics (NBIS)": "Collaborative"}, "xrefs": [{"db": "pii", "key": "10.1038/s41380-019-0584-0"}], "notes": [], "created": "2019-12-02T17:21:21.364Z", "modified": "2024-01-16T13:48:43.525Z"}, {"entity": "publication", "iuid": "063c889fe9784694a611e1bdb721d8cf", "links": {"self": {"href": "https://publications.scilifelab.se/publication/063c889fe9784694a611e1bdb721d8cf.json"}, "display": {"href": "https://publications.scilifelab.se/publication/063c889fe9784694a611e1bdb721d8cf"}}, "title": "The contribution of common genetic risk variants for ADHD to a general factor of childhood psychopathology.", "authors": [{"family": "Brikell", "given": "Isabell", "initials": "I"}, {"family": "Larsson", "given": "Henrik", "initials": "H"}, {"family": "Lu", "given": "Yi", "initials": "Y"}, {"family": "Pettersson", "given": "Erik", "initials": "E"}, {"family": "Chen", "given": "Qi", "initials": "Q"}, {"family": "Kuja-Halkola", "given": "Ralf", "initials": "R"}, {"family": "Karlsson", "given": "Robert", "initials": "R"}, {"family": "Lahey", "given": "Benjamin B", "initials": "BB"}, {"family": "Lichtenstein", "given": "Paul", "initials": "P"}, {"family": "Martin", "given": "Joanna", "initials": "J"}], "type": "journal article", "published": "2018-06-22", "journal": {"volume": null, "issn": "1476-5578", "issue": null, "title": "Mol. Psychiatry", "issn-l": "1359-4184"}, "abstract": "Common genetic risk variants have been implicated in the etiology of clinical attention-deficit/hyperactivity disorder (ADHD) diagnoses and symptoms in the general population. However, given the extensive comorbidity across ADHD and other psychiatric conditions, the extent to which genetic variants associated with ADHD also influence broader psychopathology dimensions remains unclear. The aim of this study was to evaluate the associations between ADHD polygenic risk scores (PRS) and a broad range of childhood psychiatric symptoms, and to quantify the extent to which such associations can be attributed to a general factor of childhood psychopathology. We derived ADHD PRS for 13,457 children aged 9 or 12 from the Child and Adolescent Twin Study in Sweden, using results from an independent meta-analysis of genome-wide association studies of ADHD diagnosis and symptoms. We estimated associations between ADHD PRS, a general psychopathology factor, and several dimensions of neurodevelopmental, externalizing, and internalizing symptoms, using structural equation modeling. Higher ADHD PRS were statistically significantly associated with elevated neurodevelopmental, externalizing, and depressive symptoms (R ", "doi": "10.1038/s41380-018-0109-2", "pmid": "29934545", "labels": {"National Genomics Infrastructure": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service"}, "xrefs": [{"db": "pii", "key": "10.1038/s41380-018-0109-2"}], "notes": [], "created": "2018-08-16T15:30:15.839Z", "modified": "2020-08-04T14:50:05.680Z"}, {"entity": "publication", "iuid": "fdd3b6eb7f1d42aba91c4f2a1ff74300", "links": {"self": {"href": "https://publications.scilifelab.se/publication/fdd3b6eb7f1d42aba91c4f2a1ff74300.json"}, "display": {"href": "https://publications.scilifelab.se/publication/fdd3b6eb7f1d42aba91c4f2a1ff74300"}}, "title": "Biological annotation of genetic loci associated with intelligence in a meta-analysis of 87,740 individuals.", "authors": [{"family": "Coleman", "given": "Jonathan R I", "initials": "JRI"}, {"family": "Bryois", "given": "Julien", "initials": "J"}, {"family": "Gaspar", "given": "H\u00e9l\u00e9na A", "initials": "HA"}, {"family": "Jansen", "given": "Philip R", "initials": "PR"}, {"family": "Savage", "given": "Jeanne E", "initials": "JE"}, {"family": "Skene", "given": "Nathan", "initials": "N"}, {"family": "Plomin", "given": "Robert", "initials": "R"}, {"family": "Mu\u00f1oz-Manchado", "given": "Ana B", "initials": "AB"}, {"family": "Linnarsson", "given": "Sten", "initials": "S"}, {"family": "Crawford", "given": "Greg", "initials": "G"}, {"family": "Hjerling-Leffler", "given": "Jens", "initials": "J"}, {"family": "Sullivan", "given": "Patrick F", "initials": "PF"}, {"family": "Posthuma", "given": "Danielle", "initials": "D"}, {"family": "Breen", "given": "Gerome", "initials": "G"}], "type": "journal article", "published": "2018-03-08", "journal": {"volume": null, "issn": "1476-5578", "issue": null, "title": "Mol. Psychiatry", "issn-l": "1359-4184"}, "abstract": "Variance in IQ is associated with a wide range of health outcomes, and 1% of the population are affected by intellectual disability. Despite a century of research, the fundamental neural underpinnings of intelligence remain unclear. We integrate results from genome-wide association studies (GWAS) of intelligence with brain tissue and single cell gene expression data to identify tissues and cell types associated with intelligence. GWAS data for IQ (N\u2009=\u200978,308) were meta-analyzed with a study comparing 1247 individuals with mean IQ ~170 to 8185 controls. Genes associated with intelligence implicate pyramidal neurons of the somatosensory cortex and CA1 region of the hippocampus, and midbrain embryonic GABAergic neurons. Tissue-specific analyses find the most significant enrichment for frontal cortex brain expressed genes. These results suggest specific neuronal cell types and genes may be involved in intelligence and provide new hypotheses for neuroscience experiments using model systems.", "doi": "10.1038/s41380-018-0040-6", "pmid": "29520040", "labels": {"National Genomics Infrastructure": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "Bioinformatics Support for Computational Resources": "Service"}, "xrefs": [{"db": "pii", "key": "10.1038/s41380-018-0040-6"}], "notes": [], "created": "2018-05-25T13:36:28.690Z", "modified": "2024-01-16T13:48:46.778Z"}, {"entity": "publication", "iuid": "775f25e7409f4ccdacd52bc658116f4f", "links": {"self": {"href": "https://publications.scilifelab.se/publication/775f25e7409f4ccdacd52bc658116f4f.json"}, "display": {"href": "https://publications.scilifelab.se/publication/775f25e7409f4ccdacd52bc658116f4f"}}, "title": "A DNA methylation biomarker of alcohol consumption.", "authors": [{"family": "Liu", "given": "C", "initials": "C"}, {"family": "Marioni", "given": "R E", "initials": "RE"}, {"family": "Hedman", "given": "\u00c5 K", "initials": "\u00c5K"}, {"family": "Pfeiffer", "given": "L", "initials": "L"}, {"family": "Tsai", "given": "P-C", "initials": "PC"}, {"family": "Reynolds", "given": "L M", "initials": "LM"}, {"family": "Just", "given": "A C", "initials": "AC"}, {"family": "Duan", "given": "Q", "initials": "Q"}, {"family": "Boer", "given": "C G", "initials": "CG"}, {"family": "Tanaka", "given": "T", "initials": "T"}, {"family": "Elks", "given": "C E", "initials": "CE"}, {"family": "Aslibekyan", "given": "S", "initials": "S"}, {"family": "Brody", "given": "J A", "initials": "JA"}, {"family": "K\u00fchnel", "given": "B", "initials": "B"}, {"family": "Herder", "given": "C", "initials": "C"}, {"family": "Almli", "given": "L M", "initials": "LM"}, {"family": "Zhi", "given": "D", "initials": "D"}, {"family": "Wang", "given": "Y", "initials": "Y"}, {"family": "Huan", "given": "T", "initials": "T"}, {"family": "Yao", "given": "C", "initials": "C"}, {"family": "Mendelson", "given": "M M", "initials": "MM"}, {"family": "Joehanes", "given": "R", "initials": "R"}, {"family": "Liang", "given": "L", "initials": "L"}, {"family": "Love", "given": "S-A", "initials": "SA"}, {"family": "Guan", "given": "W", "initials": "W"}, {"family": "Shah", "given": "S", "initials": "S"}, {"family": "McRae", "given": "A F", "initials": "AF"}, {"family": "Kretschmer", "given": "A", "initials": "A"}, {"family": "Prokisch", "given": "H", "initials": "H"}, {"family": "Strauch", "given": "K", "initials": "K"}, {"family": "Peters", "given": "A", "initials": "A"}, {"family": "Visscher", "given": "P M", "initials": "PM"}, {"family": "Wray", "given": "N R", "initials": "NR"}, {"family": "Guo", "given": "X", "initials": "X"}, {"family": "Wiggins", "given": "K L", "initials": "KL"}, {"family": "Smith", "given": "A K", "initials": "AK"}, {"family": "Binder", "given": "E B", "initials": "EB"}, {"family": "Ressler", "given": "K J", "initials": "KJ"}, {"family": "Irvin", "given": "M R", "initials": "MR"}, {"family": "Absher", "given": "D M", "initials": "DM"}, {"family": "Hernandez", "given": "D", "initials": "D"}, {"family": "Ferrucci", "given": "L", "initials": "L"}, {"family": "Bandinelli", "given": "S", "initials": "S"}, {"family": "Lohman", "given": "K", "initials": "K"}, {"family": "Ding", "given": "J", "initials": "J"}, {"family": "Trevisi", "given": "L", "initials": "L"}, {"family": "Gustafsson", "given": "S", "initials": "S"}, {"family": "Sandling", "given": "J H", "initials": "JH"}, {"family": "Stolk", "given": "L", "initials": "L"}, {"family": "Uitterlinden", "given": "A G", "initials": "AG"}, {"family": "Yet", "given": "I", "initials": "I"}, {"family": "Castillo-Fernandez", "given": "J E", "initials": "JE"}, {"family": "Spector", "given": "T D", "initials": "TD"}, {"family": "Schwartz", "given": "J D", "initials": "JD"}, {"family": "Vokonas", "given": "P", "initials": "P"}, {"family": "Lind", "given": "L", "initials": "L"}, {"family": "Li", "given": "Y", "initials": "Y"}, {"family": "Fornage", "given": "M", "initials": "M"}, {"family": "Arnett", "given": "D K", "initials": "DK"}, {"family": "Wareham", "given": "N J", "initials": "NJ"}, {"family": "Sotoodehnia", "given": "N", "initials": "N"}, {"family": "Ong", "given": "K K", "initials": "KK"}, {"family": "van Meurs", "given": "J B J", "initials": "JBJ"}, {"family": "Conneely", "given": "K N", "initials": "KN"}, {"family": "Baccarelli", "given": "A A", "initials": "AA"}, {"family": "Deary", "given": "I J", "initials": "IJ"}, {"family": "Bell", "given": "J T", "initials": "JT"}, {"family": "North", "given": "K E", "initials": "KE"}, {"family": "Liu", "given": "Y", "initials": "Y"}, {"family": "Waldenberger", "given": "M", "initials": "M"}, {"family": "London", "given": "S J", "initials": "SJ"}, {"family": "Ingelsson", "given": "E", "initials": "E"}, {"family": "Levy", "given": "D", "initials": "D"}], "type": "journal article", "published": "2018-02-00", "journal": {"volume": "23", "issn": "1476-5578", "issue": "2", "pages": "422-433", "title": "Mol. Psychiatry", "issn-l": "1359-4184"}, "abstract": "The lack of reliable measures of alcohol intake is a major obstacle to the diagnosis and treatment of alcohol-related diseases. Epigenetic modifications such as DNA methylation may provide novel biomarkers of alcohol use. To examine this possibility, we performed an epigenome-wide association study of methylation of cytosine-phosphate-guanine dinucleotide (CpG) sites in relation to alcohol intake in 13 population-based cohorts (n", "doi": "10.1038/mp.2016.192", "pmid": "27843151", "labels": {"National Genomics Infrastructure": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "Bioinformatics Support for Computational Resources": "Service"}, "xrefs": [{"db": "pii", "key": "mp2016192"}, {"db": "pmc", "key": "PMC5575985"}, {"db": "mid", "key": "NIHMS855941"}, {"db": "dbGaP", "description": "CHARGE (Cohorts for Heart and Aging Research in Genomic Epidemiology) Consortium Summary Results from Genomic Studies", "key": "phs000930"}], "notes": [], "created": "2017-05-03T12:59:55.799Z", "modified": "2024-01-16T13:48:47.037Z"}, {"entity": "publication", "iuid": "0128976e8d8d46669f7aca7b8d36aa37", "links": {"self": {"href": "https://publications.scilifelab.se/publication/0128976e8d8d46669f7aca7b8d36aa37.json"}, "display": {"href": "https://publications.scilifelab.se/publication/0128976e8d8d46669f7aca7b8d36aa37"}}, "title": "Evidence for three genetic loci involved in both anorexia nervosa risk and variation of body mass index.", "authors": [{"family": "Hinney", "given": "A", "initials": "A"}, {"family": "Kesselmeier", "given": "M", "initials": "M"}, {"family": "Jall", "given": "S", "initials": "S"}, {"family": "Volckmar", "given": "A-L", "initials": "AL"}, {"family": "F\u00f6cker", "given": "M", "initials": "M"}, {"family": "Antel", "given": "J", "initials": "J"}, {"family": "GCAN", "given": null, "initials": null}, {"family": "WTCCC3", "given": null, "initials": null}, {"family": "Heid", "given": "I M", "initials": "IM"}, {"family": "Winkler", "given": "T W", "initials": "TW"}, {"family": "GIANT", "given": null, "initials": null}, {"family": "Grant", "given": "S F A", "initials": "SF"}, {"family": "EGG", "given": null, "initials": null}, {"family": "Guo", "given": "Y", "initials": "Y"}, {"family": "Bergen", "given": "A W", "initials": "AW"}, {"family": "Kaye", "given": "W", "initials": "W"}, {"family": "Berrettini", "given": "W", "initials": "W"}, {"family": "Hakonarson", "given": "H", "initials": "H"}, {"family": "Price Foundation Collaborative Group", "given": null, "initials": null}, {"family": "Children\u2019s Hospital of Philadelphia/Price Foundation", "given": null, "initials": null}, {"family": "Herpertz-Dahlmann", "given": "B", "initials": "B"}, {"family": "de Zwaan", "given": "M", "initials": "M"}, {"family": "Herzog", "given": "W", "initials": "W"}, {"family": "Ehrlich", "given": "S", "initials": "S"}, {"family": "Zipfel", "given": "S", "initials": "S"}, {"family": "Egberts", "given": "K M", "initials": "KM"}, {"family": "Adan", "given": "R", "initials": "R"}, {"family": "Brandys", "given": "M", "initials": "M"}, {"family": "van Elburg", "given": "A", "initials": "A"}, {"family": "Boraska Perica", "given": "V", "initials": "V"}, {"family": "Franklin", "given": "C S", "initials": "CS"}, {"family": "Tsch\u00f6p", "given": "M H", "initials": "MH"}, {"family": "Zeggini", "given": "E", "initials": "E"}, {"family": "Bulik", "given": "C M", "initials": "CM"}, {"family": "Collier", "given": "D", "initials": "D"}, {"family": "Scherag", "given": "A", "initials": "A"}, {"family": "M\u00fcller", "given": "T D", "initials": "TD"}, {"family": "Hebebrand", "given": "J", "initials": "J"}], "type": "journal article", "published": "2017-02-00", "journal": {"volume": "22", "issn": "1476-5578", "issue": "2", "pages": "192-201", "title": "Mol. Psychiatry", "issn-l": "1359-4184"}, "abstract": "The maintenance of normal body weight is disrupted in patients with anorexia nervosa (AN) for prolonged periods of time. Prior to the onset of AN, premorbid body mass index (BMI) spans the entire range from underweight to obese. After recovery, patients have reduced rates of overweight and obesity. As such, loci involved in body weight regulation may also be relevant for AN and vice versa. Our primary analysis comprised a cross-trait analysis of the 1000 single-nucleotide polymorphisms (SNPs) with the lowest P-values in a genome-wide association meta-analysis (GWAMA) of AN (GCAN) for evidence of association in the largest published GWAMA for BMI (GIANT). Subsequently we performed sex-stratified analyses for these 1000 SNPs. Functional ex vivo studies on four genes ensued. Lastly, a look-up of GWAMA-derived BMI-related loci was performed in the AN GWAMA. We detected significant associations (P-values <5 \u00d7 10(-5), Bonferroni-corrected P<0.05) for nine SNP alleles at three independent loci. Interestingly, all AN susceptibility alleles were consistently associated with increased BMI. None of the genes (chr. 10: CTBP2, chr. 19: CCNE1, chr. 2: CARF and NBEAL1; the latter is a region with high linkage disequilibrium) nearest to these SNPs has previously been associated with AN or obesity. Sex-stratified analyses revealed that the strongest BMI signal originated predominantly from females (chr. 10 rs1561589; Poverall: 2.47 \u00d7 10(-06)/Pfemales: 3.45 \u00d7 10(-07)/Pmales: 0.043). Functional ex vivo studies in mice revealed reduced hypothalamic expression of Ctbp2 and Nbeal1 after fasting. Hypothalamic expression of Ctbp2 was increased in diet-induced obese (DIO) mice as compared with age-matched lean controls. We observed no evidence for associations for the look-up of BMI-related loci in the AN GWAMA. A cross-trait analysis of AN and BMI loci revealed variants at three chromosomal loci with potential joint impact. The chromosome 10 locus is particularly promising given that the association with obesity was primarily driven by females. In addition, the detected altered hypothalamic expression patterns of Ctbp2 and Nbeal1 as a result of fasting and DIO implicate these genes in weight regulation.", "doi": "10.1038/mp.2016.71", "pmid": "27184124", "labels": {"National Genomics Infrastructure": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "Bioinformatics Support for Computational Resources": "Service"}, "xrefs": [{"db": "pii", "key": "mp201671"}, {"db": "pmc", "key": "PMC5114162"}, {"db": "mid", "key": "NIHMS798415"}], "notes": [], "created": "2017-05-08T07:57:27.350Z", "modified": "2024-01-16T13:48:48.595Z"}, {"entity": "publication", "iuid": "3ad3dd86ecb94b56aca3c7a1273f8193", "links": {"self": {"href": "https://publications.scilifelab.se/publication/3ad3dd86ecb94b56aca3c7a1273f8193.json"}, "display": {"href": "https://publications.scilifelab.se/publication/3ad3dd86ecb94b56aca3c7a1273f8193"}}, "title": "Polygenic associations of neurodevelopmental genes in suicide attempt.", "authors": [{"family": "Sokolowski", "given": "M", "initials": "M"}, {"family": "Wasserman", "given": "J", "initials": "J"}, {"family": "Wasserman", "given": "D", "initials": "D"}], "type": "journal article", "published": "2016-10-00", "journal": {"volume": "21", "issn": "1476-5578", "issue": "10", "pages": "1381-1390", "title": "Mol. Psychiatry", "issn-l": "1359-4184"}, "abstract": "The risk for suicidal behavior (SB) is elevated in schizophrenia (SCZ), bipolar disorder (BPD) and major depressive disorder (MDD), but also occurs in subjects without psychiatric diagnoses. Genome-wide association studies (GWAS) on SB may help to understand this risk, but have been hampered by low power due to limited sample sizes, weakly ascertained SB or a reliance on single-nucleotide protein (SNP)-by-SNP analyses. Here, we tried to mitigate such issues with polygenic risk score (PRS) association tests combined with hypothesis-driven strategies using a family-based sample of 660 trios with a well-ascertained suicide attempt (SA) outcome in the offspring (Genetic Investigation of Suicide and SA, GISS). Two complementary sources of PRS information were used. First, a PRS that was discovered and validated in the GISS SA revealed the polygenic association of SNPs in 750 neurodevelopmental genes, which was driven by the SA phenotype, rather than the major psychiatric diagnoses. Second, a PRS based on three different genome-wide association studies (on SCZ, BPD or MDD) from the Psychiatric Genomics Consortium (PGC) showed an association of the PGC-SCZ PRS in the SA subjects with and without major psychiatric diagnoses. We characterized the PGC-SCZ overlap in the SA subjects without diagnoses. The extended major histocompatibility complex region did not contribute to the overlap, but we delineated the genic overlap to neurodevelopmental genes that partially overlapped with those identified by the GISS PRS. Among the 590 SA polygenes implicated here, there were several developmentally important functions (cell adhesion/migration, small GTPase and receptor tyrosine kinase signaling), and 16 of the SA polygenes have previously been studied in SB (BDNF, CDH10, CDH12, CDH13, CDH9, CREB1, DLK1, DLK2, EFEMP1, FOXN3, IL2, LSAMP, NCAM1, nerve growth factor (NGF), NTRK2 and TBC1D1). These novel genome-wide insights, supported by two lines of evidence, suggested the importance of a polygenic neurodevelopmental etiology in SB, even in the absence of major psychiatric diagnoses.", "doi": "10.1038/mp.2015.187", "pmid": "26666204", "labels": {"National Genomics Infrastructure": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service"}, "xrefs": [{"db": "pii", "key": "mp2015187"}], "notes": [], "created": "2017-05-03T13:01:34.689Z", "modified": "2020-01-21T13:56:01.642Z"}, {"entity": "publication", "iuid": "348eb4684db64e75abc60753ee27632b", "links": {"self": {"href": "https://publications.scilifelab.se/publication/348eb4684db64e75abc60753ee27632b.json"}, "display": {"href": "https://publications.scilifelab.se/publication/348eb4684db64e75abc60753ee27632b"}}, "title": "Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption.", "authors": [{"family": "Coffee and Caffeine Genetics Consortium", "given": null, "initials": null}, {"family": "Cornelis", "given": "M C", "initials": "MC"}, {"family": "Byrne", "given": "E M", "initials": "EM"}, {"family": "Esko", "given": "T", "initials": "T"}, {"family": "Nalls", "given": "M A", "initials": "MA"}, {"family": "Ganna", "given": "A", "initials": "A"}, {"family": "Paynter", "given": "N", "initials": "N"}, {"family": "Monda", "given": "K L", "initials": "KL"}, {"family": "Amin", "given": "N", "initials": "N"}, {"family": "Fischer", "given": "K", "initials": "K"}, {"family": "Renstrom", "given": "F", "initials": "F"}, {"family": "Ngwa", "given": "J S", "initials": "JS"}, {"family": "Huikari", "given": "V", "initials": "V"}, {"family": "Cavadino", "given": "A", "initials": "A"}, {"family": "Nolte", "given": "I M", "initials": "IM"}, {"family": "Teumer", "given": "A", "initials": "A"}, {"family": "Yu", "given": "K", "initials": "K"}, {"family": "Marques-Vidal", "given": "P", "initials": "P"}, {"family": "Rawal", "given": "R", "initials": "R"}, {"family": "Manichaikul", "given": "A", "initials": "A"}, {"family": "Wojczynski", "given": "M K", "initials": "MK"}, {"family": "Vink", "given": "J M", "initials": "JM"}, {"family": "Zhao", "given": "J H", "initials": "JH"}, {"family": "Burlutsky", "given": "G", "initials": "G"}, {"family": "Lahti", "given": "J", "initials": "J"}, {"family": "Mikkil\u00e4", "given": "V", "initials": "V"}, {"family": "Lemaitre", "given": "R N", "initials": "RN"}, {"family": "Eriksson", "given": "J", "initials": "J"}, {"family": "Musani", "given": "S K", "initials": "SK"}, {"family": "Tanaka", "given": "T", "initials": "T"}, {"family": "Geller", "given": "F", "initials": "F"}, {"family": "Luan", "given": "J", "initials": "J"}, {"family": "Hui", "given": "J", "initials": "J"}, {"family": "M\u00e4gi", "given": "R", "initials": "R"}, {"family": "Dimitriou", "given": "M", "initials": "M"}, {"family": "Garcia", "given": "M E", "initials": "ME"}, {"family": "Ho", "given": "W-K", "initials": "WK"}, {"family": "Wright", "given": "M J", "initials": "MJ"}, {"family": "Rose", "given": "L M", "initials": "LM"}, {"family": "Magnusson", "given": "P K E", "initials": "PK"}, {"family": "Pedersen", "given": "N L", "initials": "NL"}, {"family": "Couper", "given": "D", "initials": "D"}, {"family": "Oostra", "given": "B A", "initials": "BA"}, {"family": "Hofman", "given": "A", "initials": "A"}, {"family": "Ikram", "given": "M A", "initials": "MA"}, {"family": "Tiemeier", "given": "H W", "initials": "HW"}, {"family": "Uitterlinden", "given": "A G", "initials": "AG"}, {"family": "van Rooij", "given": "F J A", "initials": "FJ"}, {"family": "Barroso", "given": "I", "initials": "I"}, {"family": "Johansson", "given": "I", "initials": "I"}, {"family": "Xue", "given": "L", "initials": "L"}, {"family": "Kaakinen", "given": "M", "initials": "M"}, {"family": "Milani", "given": "L", "initials": "L"}, {"family": "Power", "given": "C", "initials": "C"}, {"family": "Snieder", "given": "H", "initials": "H"}, {"family": "Stolk", "given": "R P", "initials": "RP"}, {"family": "Baumeister", "given": "S E", "initials": "SE"}, {"family": "Biffar", "given": "R", "initials": "R"}, {"family": "Gu", "given": "F", "initials": "F"}, {"family": "Bastardot", "given": "F", "initials": "F"}, {"family": "Kutalik", "given": "Z", "initials": "Z"}, {"family": "Jacobs", "given": "D R", "initials": "DR"}, {"family": "Forouhi", "given": "N G", "initials": "NG"}, {"family": "Mihailov", "given": "E", "initials": "E"}, {"family": "Lind", "given": "L", "initials": "L"}, {"family": "Lindgren", "given": "C", "initials": "C"}, {"family": "Micha\u00eblsson", "given": "K", "initials": "K"}, {"family": "Morris", "given": "A", "initials": "A"}, {"family": "Jensen", "given": "M", "initials": "M"}, {"family": "Khaw", "given": "K-T", "initials": "KT"}, {"family": "Luben", "given": "R N", "initials": "RN"}, {"family": "Wang", "given": "J J", "initials": "JJ"}, {"family": "M\u00e4nnist\u00f6", "given": "S", "initials": "S"}, {"family": "Per\u00e4l\u00e4", "given": "M-M", "initials": "MM"}, {"family": "K\u00e4h\u00f6nen", "given": "M", "initials": "M"}, {"family": "Lehtim\u00e4ki", "given": "T", "initials": "T"}, {"family": "Viikari", "given": "J", "initials": "J"}, {"family": "Mozaffarian", "given": "D", "initials": "D"}, {"family": "Mukamal", "given": "K", "initials": "K"}, {"family": "Psaty", "given": "B M", "initials": "BM"}, {"family": "D\u00f6ring", "given": "A", "initials": "A"}, {"family": "Heath", "given": "A C", "initials": "AC"}, {"family": "Montgomery", "given": "G W", "initials": "GW"}, {"family": "Dahmen", "given": "N", "initials": "N"}, {"family": "Carithers", "given": "T", "initials": "T"}, {"family": "Tucker", "given": "K L", "initials": "KL"}, {"family": "Ferrucci", "given": "L", "initials": "L"}, {"family": "Boyd", "given": "H A", "initials": "HA"}, {"family": "Melbye", "given": "M", "initials": "M"}, {"family": "Treur", "given": "J L", "initials": "JL"}, {"family": "Mellstr\u00f6m", "given": "D", "initials": "D"}, {"family": "Hottenga", "given": "J J", "initials": "JJ"}, {"family": "Prokopenko", "given": "I", "initials": "I"}, {"family": "T\u00f6njes", "given": "A", "initials": "A"}, {"family": "Deloukas", "given": "P", "initials": "P"}, {"family": "Kanoni", "given": "S", "initials": "S"}, {"family": "Lorentzon", "given": "M", "initials": "M"}, {"family": "Houston", "given": "D K", "initials": "DK"}, {"family": "Liu", "given": "Y", "initials": "Y"}, {"family": "Danesh", "given": "J", "initials": "J"}, {"family": "Rasheed", "given": "A", "initials": "A"}, {"family": "Mason", "given": "M A", "initials": "MA"}, {"family": "Zonderman", "given": "A B", "initials": "AB"}, {"family": "Franke", "given": "L", "initials": "L"}, {"family": "Kristal", "given": "B S", "initials": "BS"}, {"family": "International Parkinson's Disease Genomics Consortium (IPDGC)", "given": null, "initials": null}, {"family": "North American Brain Expression Consortium (NABEC)", "given": null, "initials": null}, {"family": "UK Brain Expression Consortium (UKBEC)", "given": null, "initials": null}, {"family": "Karjalainen", "given": "J", "initials": "J"}, {"family": "Reed", "given": "D R", "initials": "DR"}, {"family": "Westra", "given": "H-J", "initials": "HJ"}, {"family": "Evans", "given": "M K", "initials": "MK"}, {"family": "Saleheen", "given": "D", "initials": "D"}, {"family": "Harris", "given": "T B", "initials": "TB"}, {"family": "Dedoussis", "given": "G", "initials": "G"}, {"family": "Curhan", "given": "G", "initials": "G"}, {"family": "Stumvoll", "given": "M", "initials": "M"}, {"family": "Beilby", "given": "J", "initials": "J"}, {"family": "Pasquale", "given": "L R", "initials": "LR"}, {"family": "Feenstra", "given": "B", "initials": "B"}, {"family": "Bandinelli", "given": "S", "initials": "S"}, {"family": "Ordovas", "given": "J M", "initials": "JM"}, {"family": "Chan", "given": "A T", "initials": "AT"}, {"family": "Peters", "given": "U", "initials": "U"}, {"family": "Ohlsson", "given": "C", "initials": "C"}, {"family": "Gieger", "given": "C", "initials": "C"}, {"family": "Martin", "given": "N G", "initials": "NG"}, {"family": "Waldenberger", "given": "M", "initials": "M"}, {"family": "Siscovick", "given": "D S", "initials": "DS"}, {"family": "Raitakari", "given": "O", "initials": "O"}, {"family": "Eriksson", "given": "J G", "initials": "JG"}, {"family": "Mitchell", "given": "P", "initials": "P"}, {"family": "Hunter", "given": "D J", "initials": "DJ"}, {"family": "Kraft", "given": "P", "initials": "P"}, {"family": "Rimm", "given": "E B", "initials": "EB"}, {"family": "Boomsma", "given": "D I", "initials": "DI"}, {"family": "Borecki", "given": "I B", "initials": "IB"}, {"family": "Loos", "given": "R J F", "initials": "RJ"}, {"family": "Wareham", "given": "N J", "initials": "NJ"}, {"family": "Vollenweider", "given": "P", "initials": "P"}, {"family": "Caporaso", "given": "N", "initials": "N"}, {"family": "Grabe", "given": "H J", "initials": "HJ"}, {"family": "Neuhouser", "given": "M L", "initials": "ML"}, {"family": "Wolffenbuttel", "given": "B H R", "initials": "BH"}, {"family": "Hu", "given": "F B", "initials": "FB"}, {"family": "Hypp\u00f6nen", "given": "E", "initials": "E"}, {"family": "J\u00e4rvelin", "given": "M-R", "initials": "MR"}, {"family": "Cupples", "given": "L A", "initials": "LA"}, {"family": "Franks", "given": "P W", "initials": "PW"}, {"family": "Ridker", "given": "P M", "initials": "PM"}, {"family": "van Duijn", "given": "C M", "initials": "CM"}, {"family": "Heiss", "given": "G", "initials": "G"}, {"family": "Metspalu", "given": "A", "initials": "A"}, {"family": "North", "given": "K E", "initials": "KE"}, {"family": "Ingelsson", "given": "E", "initials": "E"}, {"family": "Nettleton", "given": "J A", "initials": "JA"}, {"family": "van Dam", "given": "R M", "initials": "RM"}, {"family": "Chasman", "given": "D I", "initials": "DI"}], "type": "journal article", "published": "2015-05-00", "journal": {"volume": "20", "issn": "1476-5578", "issue": "5", "pages": "647-656", "title": "Mol. Psychiatry", "issn-l": "1359-4184"}, "abstract": "Coffee, a major dietary source of caffeine, is among the most widely consumed beverages in the world and has received considerable attention regarding health risks and benefits. We conducted a genome-wide (GW) meta-analysis of predominately regular-type coffee consumption (cups per day) among up to 91,462 coffee consumers of European ancestry with top single-nucleotide polymorphisms (SNPs) followed-up in ~30\u2009062 and 7964 coffee consumers of European and African-American ancestry, respectively. Studies from both stages were combined in a trans-ethnic meta-analysis. Confirmed loci were examined for putative functional and biological relevance. Eight loci, including six novel loci, met GW significance (log10Bayes factor (BF)>5.64) with per-allele effect sizes of 0.03-0.14 cups per day. Six are located in or near genes potentially involved in pharmacokinetics (ABCG2, AHR, POR and CYP1A2) and pharmacodynamics (BDNF and SLC6A4) of caffeine. Two map to GCKR and MLXIPL genes related to metabolic traits but lacking known roles in coffee consumption. Enhancer and promoter histone marks populate the regions of many confirmed loci and several potential regulatory SNPs are highly correlated with the lead SNP of each. SNP alleles near GCKR, MLXIPL, BDNF and CYP1A2 that were associated with higher coffee consumption have previously been associated with smoking initiation, higher adiposity and fasting insulin and glucose but lower blood pressure and favorable lipid, inflammatory and liver enzyme profiles (P<5 \u00d7 10(-8)).Our genetic findings among European and African-American adults reinforce the role of caffeine in mediating habitual coffee consumption and may point to molecular mechanisms underlying inter-individual variability in pharmacological and health effects of coffee.", "doi": "10.1038/mp.2014.107", "pmid": "25288136", "labels": {"National Genomics Infrastructure": null, "NGI Uppsala (SNP&SEQ Technology Platform)": null}, "xrefs": [{"db": "pii", "key": "mp2014107"}, {"db": "pmc", "key": "PMC4388784"}, {"db": "mid", "key": "NIHMS648794"}], "notes": [], "created": "2017-05-02T12:56:46.811Z", "modified": "2020-01-21T13:56:01.501Z"}, {"entity": "publication", "iuid": "e2ec88ee0b9b493cae196ed552db72f9", "links": {"self": {"href": "https://publications.scilifelab.se/publication/e2ec88ee0b9b493cae196ed552db72f9.json"}, "display": {"href": "https://publications.scilifelab.se/publication/e2ec88ee0b9b493cae196ed552db72f9"}}, "title": "Glutamatergic GRIN2B and polyaminergic ODC1 genes in suicide attempts: associations and gene-environment interactions with childhood/adolescent physical assault.", "authors": [{"family": "Sokolowski", "given": "M", "initials": "M"}, {"family": "Ben-Efraim", "given": "Y J", "initials": "YJ"}, {"family": "Wasserman", "given": "J", "initials": "J"}, {"family": "Wasserman", "given": "D", "initials": "D"}], "type": "journal article", "published": "2013-09-00", "journal": {"volume": "18", "issn": "1476-5578", "issue": "9", "pages": "985-992", "title": "Mol. Psychiatry", "issn-l": "1359-4184"}, "abstract": "The complex etiology of suicidal behavior has frequently been investigated in relation to monoaminergic neurotransmission, but other neurosystems have shown alterations as well, involving excitatory glutamatergic and inhibitory \u03b3-aminobutyric acid (GABA) molecular components, together with the modulating polyamines. Sufficiently powered and family-based association studies of glutamatergic and GABAergic genes with suicidal behavior are nonexistent, but several studies have been reported for polyamines. We therefore conducted, for the first time ever, an extensive family-based study of 113 candidate single-nucleotide polymorphisms (SNPs) located in 24 glutamatergic and GABA genes, in addition to interrelated polyaminergic genes, on the outcome of severe suicide attempts (SAs). The family-based analysis (n=660 trios) was supplemented with gene-environment interaction (G \u00d7 E), case-control (n=519 controls) and subgroup analyses. The main observations were the previously unreported association and linkage of SNPs rs2268115 and rs220557 in GRIN2B, as well as of SNPs rs1049500 and rs2302614 in ODC1 (P<10(-2)). Furthermore, GRIN2B haplotypic associations were observed, in particular with a four-SNP AGGC haplotype (rs1805247-rs1806201-rs1805482-rs2268115; P<10(-5)), and a third SNP rs7559979 in ODC1 showed G \u00d7 E with serious childhood/adolescent physical assault (P<10(-4)). SA subjects were characterized by transdiagnostic trait anger and past year alcohol-drug use disorders, but not by alcohol-drug use at SA, depression, anxiety or psychosis diagnoses. We also discuss a first ever confirmatory observation of SNP rs6526342 (polyaminergic SAT1) in SA, originally identified in completed suicides. The results suggest that specific genetic variants in a subset of glutamatergic (GRIN2B) and polyaminergic (ODC1) neurosystem genes may be of importance in certain suicidal subjects.", "doi": "10.1038/mp.2012.112", "pmid": "22850629", "labels": {"National Genomics Infrastructure": null, "NGI Uppsala (SNP&SEQ Technology Platform)": null}, "xrefs": [{"db": "pii", "key": "mp2012112"}], "notes": [], "created": "2017-05-04T15:01:21.826Z", "modified": "2020-01-21T13:56:05.815Z"}, {"entity": "publication", "iuid": "11d2225f3a49441792b37f668708d895", "links": {"self": {"href": "https://publications.scilifelab.se/publication/11d2225f3a49441792b37f668708d895.json"}, "display": {"href": "https://publications.scilifelab.se/publication/11d2225f3a49441792b37f668708d895"}}, "title": "Family-based study of HTR2A in suicide attempts: observed gene, gene \u00d7 environment and parent-of-origin associations.", "authors": [{"family": "Ben-Efraim", "given": "Y J", "initials": "YJ"}, {"family": "Wasserman", "given": "D", "initials": "D"}, {"family": "Wasserman", "given": "J", "initials": "J"}, {"family": "Sokolowski", "given": "M", "initials": "M"}], "type": "journal article", "published": "2013-07-00", "journal": {"volume": "18", "issn": "1476-5578", "issue": "7", "pages": "758-766", "title": "Mol. Psychiatry", "issn-l": "1359-4184"}, "abstract": "While suicidal behavior is frequently accompanied by serotonergic system alterations, specific associations with genetic variation in the serotonin 2A receptor (HTR2A) gene have been inconsistent. Using a family-based study design of 660 offspring who have made a suicide attempt (SA) and both parents, we conducted an association and linkage analysis using single-nucleotide polymorphisms (SNPs) with extensive gene coverage, and included the study of parent-of-origin (POE) and gene-environment interaction (G \u00d7 E), also using previously unstudied exposures. The main finding was a G \u00d7 E between the exon 1 SNP rs6313 and exposure to cumulative types of lifetime stressful life events (SLEs), driven by overtransmission of CT and undertransmission of TT, both in relation to other genotypes. Further exploratory analysis revealed a significant POE in this G \u00d7 E in female subjects, which followed a polar overdominant inheritance pattern. In addition, rs6310 and rs6305 were found to significantly associate with SA in the total sample. A G \u00d7 E in female subjects (rs7322347 \u00d7 physical assault in childhood/adolescence) confirmed features of a previously observed association with SA. Other potentially interesting nominally significant findings were observed, but like the G \u00d7 E of rs7322347 did not pass a false-discovery rate cutoff. Taken together, this study found multiple associations of HTR2A SNPs on SA, with strongest statistical evidence for a G \u00d7 E involving rs6313, and further suggested the importance of taking into account different inheritance patterns and G \u00d7 Es with regard to HTR2A.", "doi": "10.1038/mp.2012.86", "pmid": "22751492", "labels": {"National Genomics Infrastructure": null, "NGI Uppsala (SNP&SEQ Technology Platform)": null}, "xrefs": [{"db": "pii", "key": "mp201286"}], "notes": [], "created": "2017-05-04T15:01:21.524Z", "modified": "2020-01-21T13:56:00.764Z"}, {"entity": "publication", "iuid": "a4e6280a8bc749d2a9cd215b6c63bc61", "links": {"self": {"href": "https://publications.scilifelab.se/publication/a4e6280a8bc749d2a9cd215b6c63bc61.json"}, "display": {"href": "https://publications.scilifelab.se/publication/a4e6280a8bc749d2a9cd215b6c63bc61"}}, "title": "Association of polymorphisms in the SLIT2 axonal guidance gene with anger in suicide attempters.", "authors": [{"family": "Sokolowski", "given": "M", "initials": "M"}, {"family": "Wasserman", "given": "J", "initials": "J"}, {"family": "Wasserman", "given": "D", "initials": "D"}], "type": "letter", "published": "2010-01-00", "journal": {"volume": "15", "issn": "1476-5578", "issue": "1", "pages": "10-11", "title": "Mol. Psychiatry", "issn-l": "1359-4184"}, "abstract": null, "doi": "10.1038/mp.2009.70", "pmid": "20029409", "labels": {"National Genomics Infrastructure": null, "NGI Uppsala (SNP&SEQ Technology Platform)": null}, "xrefs": [{"db": "pii", "key": "mp200970"}], "notes": [], "created": "2017-05-04T15:00:33.760Z", "modified": "2020-01-21T13:56:04.244Z"}, {"entity": "publication", "iuid": "c97dc7656927434aa4bdef678dad5e34", "links": {"self": {"href": "https://publications.scilifelab.se/publication/c97dc7656927434aa4bdef678dad5e34.json"}, "display": {"href": "https://publications.scilifelab.se/publication/c97dc7656927434aa4bdef678dad5e34"}}, "title": "The 2009 Nobel conference on the role of genetics in promoting suicide prevention and the mental health of the population.", "authors": [{"family": "Wasserman", "given": "D", "initials": "D"}, {"family": "Terenius", "given": "L", "initials": "L"}, {"family": "Wasserman", "given": "J", "initials": "J"}, {"family": "Sokolowski", "given": "M", "initials": "M"}], "type": "journal article", "published": "2010-01-00", "journal": {"volume": "15", "issn": "1476-5578", "issue": "1", "pages": "12-17", "title": "Mol. Psychiatry", "issn-l": "1359-4184"}, "abstract": "A 3-day Nobel Conference entitled 'The role of genetics in promoting suicide prevention and the mental health of the population' was held at the Nobel Forum, Karolinska Institute (KI) in Stockholm, Sweden, during 8-10 June 2009. The conference was sponsored by the Nobel Assembly for Physiology or Medicine and organized by the National Prevention for Suicide and Mental Ill-Health and the Center for Molecular Medicine at KI. The program consisted of 19 invited presentations, covering the genetic basis of mood/psychotic disorders and substance abuse in relation to suicide, with topics ranging from cellular-molecular mechanisms to (endo)phenotypes of mental disorders at the level of the individual and populations. Here, we provide an overview based on the highlights of what was presented.", "doi": "10.1038/mp.2009.113", "pmid": "20029410", "labels": {"National Genomics Infrastructure": null, "NGI Uppsala (SNP&SEQ Technology Platform)": null}, "xrefs": [{"db": "pii", "key": "mp2009113"}], "notes": [], "created": "2017-05-04T15:00:34.065Z", "modified": "2020-01-21T13:56:05.164Z"}], "created": "2017-05-09T09:12:50.857Z", "modified": "2020-11-27T13:14:04.015Z"}