{"entity": "researcher", "timestamp": "2026-10-05T20:59:02.168Z", "family": "Smit", "given": "Dirk J A", "initials": "DJA", "orcid": "0000-0001-8301-8860", "affiliations": ["Department of Psychiatry, Amsterdam University Medical Centers, Amsterdam, The Netherlands.", "Amsterdam Neuroscience, Amsterdam, The Netherlands."], "links": {"self": {"href": "https://publications.scilifelab.se/researcher/fe64f7980537495aba79c0eca978e95d.json"}, "display": {"href": "https://publications.scilifelab.se/researcher/fe64f7980537495aba79c0eca978e95d"}}, "publications": [{"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": "951fe1c92cc543a6a9e5e7e77d717e43", "links": {"self": {"href": "https://publications.scilifelab.se/publication/951fe1c92cc543a6a9e5e7e77d717e43.json"}, "display": {"href": "https://publications.scilifelab.se/publication/951fe1c92cc543a6a9e5e7e77d717e43"}}, "title": "Distinct biological signature and modifiable risk factors underlie the comorbidity between major depressive disorder and cardiovascular disease.", "authors": [{"family": "Bergstedt", "given": "Jacob", "initials": "J", "orcid": "0000-0002-9279-6936", "researcher": {"href": "https://publications.scilifelab.se/researcher/0e8ca729357b421588628aa2eb06c2f8.json"}}, {"family": "Pasman", "given": "Jo\u00eblle A", "initials": "JA"}, {"family": "Ma", "given": "Ziyan", "initials": "Z", "orcid": "0000-0002-7514-7934", "researcher": {"href": "https://publications.scilifelab.se/researcher/2bbd5464ee38451ca03fcaad9c139880.json"}}, {"family": "Harder", "given": "Arvid", "initials": "A"}, {"family": "Yao", "given": "Shuyang", "initials": "S", "orcid": "0000-0001-9669-4470", "researcher": {"href": "https://publications.scilifelab.se/researcher/fcd036ee020e4622ad16d020bfcd7b38.json"}}, {"family": "Parker", "given": "Nadine", "initials": "N", "orcid": "0000-0002-8369-0152", "researcher": {"href": "https://publications.scilifelab.se/researcher/75b520fd4bc844bbbe2a69cbb7add972.json"}}, {"family": "Treur", "given": "Jorien L", "initials": "JL"}, {"family": "Smit", "given": "Dirk J A", "initials": "DJA", "orcid": "0000-0001-8301-8860", "researcher": {"href": "https://publications.scilifelab.se/researcher/fe64f7980537495aba79c0eca978e95d.json"}}, {"family": "Frei", "given": "Oleksandr", "initials": "O", "orcid": "0000-0002-6427-2625", "researcher": {"href": "https://publications.scilifelab.se/researcher/9c8807f848384cc6a2740d146982de78.json"}}, {"family": "Shadrin", "given": "Alexey A", "initials": "AA"}, {"family": "Meijsen", "given": "Joeri J", "initials": "JJ", "orcid": "0000-0002-4161-2199", "researcher": {"href": "https://publications.scilifelab.se/researcher/033902c73aa9444f849c849573020961.json"}}, {"family": "Shen", "given": "Qing", "initials": "Q"}, {"family": "H\u00e4gg", "given": "Sara", "initials": "S"}, {"family": "Tornvall", "given": "Per", "initials": "P"}, {"family": "Buil", "given": "Alfonso", "initials": "A", "orcid": "0000-0002-3097-1014", "researcher": {"href": "https://publications.scilifelab.se/researcher/84f11deb6b084f7fa476ea29893febd9.json"}}, {"family": "Werge", "given": "Thomas", "initials": "T", "orcid": "0000-0003-1829-0766", "researcher": {"href": "https://publications.scilifelab.se/researcher/89e727c9b54c4e23b9104fbc10b7b4e3.json"}}, {"family": "Hjerling-Leffler", "given": "Jens", "initials": "J", "orcid": "0000-0002-4539-1776", "researcher": {"href": "https://publications.scilifelab.se/researcher/51675f0ff9aa47d89d6b2eb84a14820a.json"}}, {"family": "Als", "given": "Thomas D", "initials": "TD", "orcid": "0000-0002-2963-1928", "researcher": {"href": "https://publications.scilifelab.se/researcher/099f1704a3c44f2882495f41a5124747.json"}}, {"family": "B\u00f8rglum", "given": "Anders D", "initials": "AD", "orcid": "0000-0001-8627-7219", "researcher": {"href": "https://publications.scilifelab.se/researcher/2165b6bc161443c5b670ef7d982b2e85.json"}}, {"family": "Lewis", "given": "Cathryn M", "initials": "CM", "orcid": "0000-0002-8249-8476", "researcher": {"href": "https://publications.scilifelab.se/researcher/72c89121dcde4b36a8d0e661ddc32b99.json"}}, {"family": "McIntosh", "given": "Andrew M", "initials": "AM", "orcid": "0000-0002-0198-4588", "researcher": {"href": "https://publications.scilifelab.se/researcher/cbac1cee97084746b97442ec39efe91b.json"}}, {"family": "Valdimarsd\u00f3ttir", "given": "Unnur A", "initials": "UA", "orcid": "0000-0001-5382-946X", "researcher": {"href": "https://publications.scilifelab.se/researcher/255c46fadd18490cbda4aef22474fbfb.json"}}, {"family": "Andreassen", "given": "Ole A", "initials": "OA", "orcid": "0000-0002-4461-3568", "researcher": {"href": "https://publications.scilifelab.se/researcher/56f384e8e2fd4a7383c7b26e88a828b2.json"}}, {"family": "Sullivan", "given": "Patrick F", "initials": "PF", "orcid": "0000-0002-6619-873X", "researcher": {"href": "https://publications.scilifelab.se/researcher/4d95de0b5ab14586980a6a13c8299346.json"}}, {"family": "Lu", "given": "Yi", "initials": "Y", "orcid": "0000-0001-9933-3654", "researcher": {"href": "https://publications.scilifelab.se/researcher/4a73eafe0b0e4221a77b96800883413d.json"}}, {"family": "Fang", "given": "Fang", "initials": "F", "orcid": "0000-0002-3310-6456", "researcher": {"href": "https://publications.scilifelab.se/researcher/5ab8a681a053477b81f093cbd6232947.json"}}], "type": "journal article", "published": "2024-06-00", "journal": {"title": "Nat Cardiovasc Res", "issn": "2731-0590", "volume": "3", "issue": "6", "pages": "754-769", "issn-l": null}, "abstract": "Major depressive disorder (MDD) and cardiovascular disease (CVD) are often comorbid, resulting in excess morbidity and mortality. Here we show that CVDs share most of their genetic risk factors with MDD. Multivariate genome-wide association analysis of shared genetic liability between MDD and atherosclerotic CVD revealed seven loci and distinct patterns of tissue and brain cell-type enrichments, suggesting the involvement of the thalamus. Part of the genetic overlap was explained by shared inflammatory, metabolic and psychosocial or lifestyle risk factors. Our data indicated causal effects of genetic liability to MDD on CVD risk, but not from most CVDs to MDD, and showed that the causal effects were partly explained by metabolic and psychosocial or lifestyle factors. The distinct signature of MDD-atherosclerotic CVD comorbidity suggests an immunometabolic subtype of MDD that is more strongly associated with CVD than overall MDD. In summary, we identified biological mechanisms underlying MDD-CVD comorbidity and modifiable risk factors for prevention of CVD in individuals with MDD.", "doi": "10.1038/s44161-024-00488-y", "pmid": "39215135", "labels": {"Bioinformatics Support for Computational Resources": "Service"}, "xrefs": [{"db": "mid", "key": "NIHMS2040135"}, {"db": "pmc", "key": "PMC11182748"}, {"db": "pii", "key": "10.1038/s44161-024-00488-y"}], "notes": [], "created": "2025-02-28T14:16:32.184Z", "modified": "2025-12-04T19:40:53.954Z"}, {"entity": "publication", "iuid": "93dff8562c4a43bf9052f0be7d1f2716", "links": {"self": {"href": "https://publications.scilifelab.se/publication/93dff8562c4a43bf9052f0be7d1f2716.json"}, "display": {"href": "https://publications.scilifelab.se/publication/93dff8562c4a43bf9052f0be7d1f2716"}}, "title": "Meta-analysis of genome-wide association studies of hoarding symptoms in 27,537 individuals.", "authors": [{"family": "Strom", "given": "Nora I", "initials": "NI", "orcid": "0000-0002-5261-8852", "researcher": {"href": "https://publications.scilifelab.se/researcher/bcd18b76d8d948dfb5529a2be294ecab.json"}}, {"family": "Smit", "given": "Dirk J A", "initials": "DJA", "orcid": "0000-0001-8301-8860", "researcher": {"href": "https://publications.scilifelab.se/researcher/fe64f7980537495aba79c0eca978e95d.json"}}, {"family": "Silzer", "given": "Talisa", "initials": "T"}, {"family": "Iyegbe", "given": "Conrad", "initials": "C"}, {"family": "Burton", "given": "Christie L", "initials": "CL", "orcid": "0000-0002-8955-6528", "researcher": {"href": "https://publications.scilifelab.se/researcher/4607f407ac9d4213a81b4a77b4cce4ad.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"}, {"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"}, {"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 J", "initials": "RJ"}, {"family": "Wu", "given": "Hei Man", "initials": "HM", "orcid": "0000-0003-1559-7586", "researcher": {"href": "https://publications.scilifelab.se/researcher/1578fafcb32642609d408fcff09cd91e.json"}}, {"family": "Meier", "given": "Sandra M", "initials": "SM"}, {"family": "Crosbie", "given": "Jennifer", "initials": "J"}, {"family": "Arnold", "given": "Paul D", "initials": "PD", "orcid": "0000-0003-2496-4624", "researcher": {"href": "https://publications.scilifelab.se/researcher/c21fa35b3bf246ab8a96866510fc069b.json"}}, {"family": "Mattheisen", "given": "Manuel", "initials": "M", "orcid": "0000-0002-8442-493X", "researcher": {"href": "https://publications.scilifelab.se/researcher/c38fef539c2c4cebb81eff917aa3d4ef.json"}}, {"family": "Boomsma", "given": "Dorret I", "initials": "DI", "orcid": "0000-0002-7099-7972", "researcher": {"href": "https://publications.scilifelab.se/researcher/4b66ab2525fd4a468e7a4ad14c955cb4.json"}}, {"family": "Mataix-Cols", "given": "David", "initials": "D", "orcid": "0000-0002-4545-0924", "researcher": {"href": "https://publications.scilifelab.se/researcher/9954431e50b749aeb6957835ae1632f3.json"}}, {"family": "Cath", "given": "Danielle", "initials": "D"}], "type": "meta-analysis", "published": "2022-11-15", "journal": {"title": "Transl Psychiatry", "issn": "2158-3188", "volume": "12", "issue": "1", "pages": "479", "issn-l": "2158-3188"}, "abstract": "Hoarding Disorder (HD) is a mental disorder characterized by persistent difficulties discarding or parting with possessions, often resulting in cluttered living spaces, distress, and impairment. Its etiology is largely unknown, but twin studies suggest that it is moderately heritable. In this study, we pooled phenotypic and genomic data from seven international cohorts (N = 27,537 individuals) and conducted a genome wide association study (GWAS) meta-analysis of parent- or self-reported hoarding symptoms (HS). We followed up the results with gene-based and gene-set analyses, as well as leave-one-out HS polygenic risk score (PRS) analyses. To examine a possible genetic association between hoarding symptoms and other phenotypes we conducted cross-trait PRS analyses. Though we did not report any genome-wide significant SNPs, we report heritability estimates for the twin-cohorts between 26-48%, and a SNP-heritability of 11% for an unrelated sub-cohort. Cross-trait PRS analyses showed that the genetic risk for schizophrenia and autism spectrum disorder were significantly associated with hoarding symptoms. We also found suggestive evidence for an association with educational attainment. There were no significant associations with other phenotypes previously linked to HD, such as obsessive-compulsive disorder, depression, anxiety, or attention-deficit hyperactivity disorder. To conclude, we found that HS are heritable, confirming and extending previous twin studies but we had limited power to detect any genome-wide significant loci. Much larger samples will be needed to further extend these findings and reach a \"gene discovery zone\". To move the field forward, future research should not only include genetic analyses of quantitative hoarding traits in larger samples, but also in samples of individuals meeting strict diagnostic criteria for HD, and more ethnically diverse samples.", "doi": "10.1038/s41398-022-02248-7", "pmid": "36379924", "labels": {"National Genomics Infrastructure": "Service", "NGI SNP genotyping": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "Bioinformatics Support for Computational Resources": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC9666541"}, {"db": "pii", "key": "10.1038/s41398-022-02248-7"}], "notes": [], "created": "2022-12-23T11:26:48.889Z", "modified": "2024-01-16T13:48:34.470Z"}]}