{"entity": "journal", "iuid": "305262df4bca42808d123b44c0cda2f0", "timestamp": "2026-10-11T05:31:56.207Z", "links": {"self": {"href": "https://publications.scilifelab.se/journal/Am.%20J.%20Med.%20Genet.%20B%20Neuropsychiatr.%20Genet..json"}, "display": {"href": "https://publications.scilifelab.se/journal/Am.%20J.%20Med.%20Genet.%20B%20Neuropsychiatr.%20Genet."}}, "title": "Am. J. Med. Genet. B Neuropsychiatr. Genet.", "issn": "1552-485X", "issn-l": "1552-4841", "publications_count": 10, "publications": [{"entity": "publication", "iuid": "d7516c3dcf1d40f885a03f6e3f2e3c26", "links": {"self": {"href": "https://publications.scilifelab.se/publication/d7516c3dcf1d40f885a03f6e3f2e3c26.json"}, "display": {"href": "https://publications.scilifelab.se/publication/d7516c3dcf1d40f885a03f6e3f2e3c26"}}, "title": "Genomic Analysis of Trichotillomania.", "authors": [{"family": "Halvorsen", "given": "Matthew W", "initials": "MW"}, {"family": "Garrett", "given": "Melanie E", "initials": "ME"}, {"family": "Cuccaro", "given": "Michael L", "initials": "ML"}, {"family": "Ashley-Koch", "given": "Allison E", "initials": "AE"}, {"family": "Crowley", "given": "James J", "initials": "JJ"}], "type": "journal article", "published": "2025-06-13", "journal": {"title": "Am. J. Med. Genet. B Neuropsychiatr. Genet.", "issn": "1552-485X", "pages": "e33035", "issn-l": "1552-4841"}, "abstract": "Trichotillomania (TTM) is a psychiatric condition in which people feel an overwhelming urge to pull out their hair, resulting in noticeable hair loss and significant distress. Twin and family studies suggest that TTM is at least partly genetic, but no genome-wide analyses have been completed. To fill the gap in this field, we have conducted a case-control study of genotype array data from 101 European ancestry TTM cases and 488 ancestry-matched unaffected controls. TTM cases were ascertained in the United States through web-based recruitment, patient support groups, and conferences organized by the Trichotillomania Learning Center. Following clinical confirmation of a TTM diagnosis, patients completed self-report assessments of frequency and duration of hair pulling, other psychiatric symptoms, and family history. Unaffected controls were also ascertained in the United States and were matched to cases by ancestry. In the first formal genome-wide association study of TTM, we did not identify any common variants with a genome-wide significant (p < 5 \u00d7 10-8) association level with case status. We found that cases carry a higher load of common polygenic risk for psychiatric disorders (p = 0.008). We also detected copy number variants previously associated with neuropsychiatric disorders (specifically, deletions in NRXN1, CSMD1, and 15q11.2). These results further support genetics' role in the etiology of TTM and suggest that larger studies are likely to identify risk variation and, ultimately, specific risk genes associated with the condition.", "doi": "10.1002/ajmg.b.33035", "pmid": "40511557", "labels": {"NGI SNP genotyping": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "National Genomics Infrastructure": "Service"}, "xrefs": [{"db": "mid", "key": "NIHMS2090990"}, {"db": "pmc", "key": "PMC12354282"}], "notes": [], "created": "2025-09-08T07:02:43.198Z", "modified": "2025-09-08T07:02:43.211Z"}, {"entity": "publication", "iuid": "281525954deb43569a3aeab075748d9c", "links": {"self": {"href": "https://publications.scilifelab.se/publication/281525954deb43569a3aeab075748d9c.json"}, "display": {"href": "https://publications.scilifelab.se/publication/281525954deb43569a3aeab075748d9c"}}, "title": "Genomics of severe and treatment-resistant obsessive-compulsive disorder treated with deep brain stimulation: A preliminary investigation.", "authors": [{"family": "Chen", "given": "Long Long", "initials": "LL"}, {"family": "Naesstr\u00f6m", "given": "Matilda", "initials": "M"}, {"family": "Halvorsen", "given": "Matthew", "initials": "M"}, {"family": "Fytagoridis", "given": "Anders", "initials": "A"}, {"family": "Crowley", "given": "Stephanie B", "initials": "SB"}, {"family": "Mataix-Cols", "given": "David", "initials": "D"}, {"family": "R\u00fcck", "given": "Christian", "initials": "C"}, {"family": "Crowley", "given": "James J", "initials": "JJ", "orcid": "0000-0001-9051-1557", "researcher": {"href": "https://publications.scilifelab.se/researcher/14ecad66262b47dcadebcc8c7e759024.json"}}, {"family": "Pascal", "given": "Diana", "initials": "D"}], "type": "journal article", "published": "2024-12-00", "journal": {"title": "Am. J. Med. Genet. B Neuropsychiatr. Genet.", "issn": "1552-485X", "issn-l": "1552-4841", "volume": "195", "issue": "8", "pages": "e32983"}, "abstract": "Individuals with severe and treatment-resistant obsessive-compulsive disorder (trOCD) represent a small but severely disabled group of patients. Since trOCD cases eligible for deep brain stimulation (DBS) probably comprise the most severe end of the OCD spectrum, we hypothesize that they may be more likely to have a strong genetic contribution to their disorder. Therefore, while the worldwide population of DBS-treated cases may be small (~300), screening these individuals with modern genomic methods may accelerate gene discovery in OCD. As such, we have begun to collect DNA from trOCD cases who qualify for DBS, and here we report results from whole exome sequencing and microarray genotyping of our first five cases. All participants had previously received DBS in the bed nucleus of stria terminalis (BNST), with two patients responding to the surgery and one showing a partial response. Our analyses focused on gene-disruptive rare variants (GDRVs; rare, predicted-deleterious single-nucleotide variants or copy number variants overlapping protein-coding genes). Three of the five cases carried a GDRV, including a missense variant in the ion transporter domain of KCNB1, a deletion at 15q11.2, and a duplication at 15q26.1. The KCNB1 variant (hg19 chr20-47991077-C-T, NM_004975.3:c.1020G>A, p.Met340Ile) causes substitution of methionine for isoleucine in the trans-membrane region of neuronal potassium voltage-gated ion channel KV2.1. This KCNB1 substitution (Met340Ile) is located in a highly constrained region of the protein where other rare missense variants have previously been associated with neurodevelopmental disorders. The patient carrying the Met340Ile variant responded to DBS, which suggests that genetic factors could potentially be predictors of treatment response in DBS for OCD. In sum, we have established a protocol for recruiting and genomically characterizing trOCD cases. Preliminary results suggest that this will be an informative strategy for finding risk genes in OCD.", "doi": "10.1002/ajmg.b.32983", "pmid": "38650085", "labels": {"NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "National Genomics Infrastructure": "Service", "NGI Short read": "Service"}, "xrefs": [{"db": "mid", "key": "NIHMS1984060"}, {"db": "pmc", "key": "PMC11493841"}], "notes": "Pre-print available:\r\nDOI: 10.1101/2023.04.15.23288623", "created": "2024-11-12T10:39:23.334Z", "modified": "2024-11-19T10:09:44.036Z"}, {"entity": "publication", "iuid": "adf88ccfb5234e1a956955924cb042b7", "links": {"self": {"href": "https://publications.scilifelab.se/publication/adf88ccfb5234e1a956955924cb042b7.json"}, "display": {"href": "https://publications.scilifelab.se/publication/adf88ccfb5234e1a956955924cb042b7"}}, "title": "Genetic comorbidity between major depression and cardio-metabolic traits, stratified by age at onset of major depression.", "authors": [{"family": "Hagenaars", "given": "Saskia P", "initials": "SP", "orcid": "0000-0001-9697-8596", "researcher": {"href": "https://publications.scilifelab.se/researcher/2648f5c01c0d497c96f18f3836117aac.json"}}, {"family": "Coleman", "given": "Jonathan R I", "initials": "JRI", "orcid": "0000-0002-6759-0944", "researcher": {"href": "https://publications.scilifelab.se/researcher/91f9f96c887447918926b36de9cfc820.json"}}, {"family": "Choi", "given": "Shing Wan", "initials": "SW"}, {"family": "Gaspar", "given": "H\u00e9l\u00e9na", "initials": "H"}, {"family": "Adams", "given": "Mark J", "initials": "MJ"}, {"family": "Howard", "given": "David M", "initials": "DM"}, {"family": "Hodgson", "given": "Karen", "initials": "K"}, {"family": "Traylor", "given": "Matthew", "initials": "M"}, {"family": "Air", "given": "Tracy M", "initials": "TM"}, {"family": "Andlauer", "given": "Till F M", "initials": "TFM", "orcid": "0000-0002-2917-5889", "researcher": {"href": "https://publications.scilifelab.se/researcher/66b66e6c499e459ba61db4cbae3e22a9.json"}}, {"family": "Arolt", "given": "Volker", "initials": "V"}, {"family": "Baune", "given": "Bernhard T", "initials": "BT"}, {"family": "Binder", "given": "Elisabeth B", "initials": "EB"}, {"family": "Blackwood", "given": "Douglas H R", "initials": "DHR"}, {"family": "Boomsma", "given": "Dorret I", "initials": "DI"}, {"family": "Campbell", "given": "Archie", "initials": "A"}, {"family": "Cearns", "given": "Micah", "initials": "M"}, {"family": "Czamara", "given": "Darina", "initials": "D", "orcid": "0000-0001-7381-904X", "researcher": {"href": "https://publications.scilifelab.se/researcher/0e9a8a7d605d4f63a311fc8a211422a6.json"}}, {"family": "Dannlowski", "given": "Udo", "initials": "U"}, {"family": "Domschke", "given": "Katharina", "initials": "K"}, {"family": "de Geus", "given": "Eco J C", "initials": "EJC"}, {"family": "Hamilton", "given": "Steven P", "initials": "SP"}, {"family": "Hayward", "given": "Caroline", "initials": "C"}, {"family": "Hickie", "given": "Ian B", "initials": "IB"}, {"family": "Hottenga", "given": "Jouke Jan", "initials": "JJ"}, {"family": "Ising", "given": "Marcus", "initials": "M"}, {"family": "Jones", "given": "Ian", "initials": "I"}, {"family": "Jones", "given": "Lisa", "initials": "L"}, {"family": "Kutalik", "given": "Zoltan", "initials": "Z"}, {"family": "Lucae", "given": "Susanne", "initials": "S"}, {"family": "Martin", "given": "Nicholas G", "initials": "NG", "orcid": "0000-0003-4069-8020", "researcher": {"href": "https://publications.scilifelab.se/researcher/1b445e5935f74fd6a71b2e92a9dac176.json"}}, {"family": "Milaneschi", "given": "Yuri", "initials": "Y"}, {"family": "Mueller-Myhsok", "given": "Bertram", "initials": "B"}, {"family": "Owen", "given": "Michael J", "initials": "MJ"}, {"family": "Padmanabhan", "given": "Sandosh", "initials": "S"}, {"family": "Penninx", "given": "Brenda W J H", "initials": "BWJH"}, {"family": "Pistis", "given": "Giorgio", "initials": "G"}, {"family": "Porteous", "given": "David J", "initials": "DJ"}, {"family": "Preisig", "given": "Martin", "initials": "M"}, {"family": "Ripke", "given": "Stephan", "initials": "S"}, {"family": "Shyn", "given": "Stanley I", "initials": "SI"}, {"family": "Sullivan", "given": "Patrick F", "initials": "PF"}, {"family": "Whitfield", "given": "John B", "initials": "JB"}, {"family": "Wray", "given": "Naomi R", "initials": "NR", "orcid": "0000-0001-7421-3357", "researcher": {"href": "https://publications.scilifelab.se/researcher/15a175036d9f44f9b4090d7d431f78d7.json"}}, {"family": "McIntosh", "given": "Andrew M", "initials": "AM"}, {"family": "Deary", "given": "Ian J", "initials": "IJ"}, {"family": "Breen", "given": "Gerome", "initials": "G"}, {"family": "Lewis", "given": "Cathryn M", "initials": "CM"}], "type": "journal article", "published": "2020-09-00", "journal": {"title": "Am. J. Med. Genet. B Neuropsychiatr. Genet.", "issn": "1552-485X", "volume": "183", "issue": "6", "pages": "309-330", "issn-l": "1552-4841"}, "abstract": "It is imperative to understand the specific and shared etiologies of major depression and cardio-metabolic disease, as both traits are frequently comorbid and each represents a major burden to society. This study examined whether there is a genetic association between major depression and cardio-metabolic traits and if this association is stratified by age at onset for major depression. Polygenic risk scores analysis and linkage disequilibrium score regression was performed to examine whether differences in shared genetic etiology exist between depression case control status (N cases = 40,940, N controls = 67,532), earlier (N = 15,844), and later onset depression (N = 15,800) with body mass index, coronary artery disease, stroke, and type 2 diabetes in 11 data sets from the Psychiatric Genomics Consortium, Generation Scotland, and UK Biobank. All cardio-metabolic polygenic risk scores were associated with depression status. Significant genetic correlations were found between depression and body mass index, coronary artery disease, and type 2 diabetes. Higher polygenic risk for body mass index, coronary artery disease, and type 2 diabetes was associated with both early and later onset depression, while higher polygenic risk for stroke was associated with later onset depression only. Significant genetic correlations were found between body mass index and later onset depression, and between coronary artery disease and both early and late onset depression. The phenotypic associations between major depression and cardio-metabolic traits may partly reflect their overlapping genetic etiology irrespective of the age depression first presents.", "doi": "10.1002/ajmg.b.32807", "pmid": "32681593", "labels": {"National Genomics Infrastructure": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC7991693"}, {"db": "mid", "key": "NIHMS1669188"}], "notes": [], "created": "2020-08-04T14:50:09.256Z", "modified": "2021-11-10T12:49:11.517Z"}, {"entity": "publication", "iuid": "4742c0db10134b1d8446038f214e134f", "links": {"self": {"href": "https://publications.scilifelab.se/publication/4742c0db10134b1d8446038f214e134f.json"}, "display": {"href": "https://publications.scilifelab.se/publication/4742c0db10134b1d8446038f214e134f"}}, "title": "Copy number variation and neuropsychiatric problems in females and males in the general population.", "authors": [{"family": "Martin", "given": "Joanna", "initials": "J"}, {"family": "Tammimies", "given": "Kristiina", "initials": "K"}, {"family": "Karlsson", "given": "Robert", "initials": "R"}, {"family": "Lu", "given": "Yi", "initials": "Y"}, {"family": "Larsson", "given": "Henrik", "initials": "H"}, {"family": "Lichtenstein", "given": "Paul", "initials": "P"}, {"family": "Magnusson", "given": "Patrik K E", "initials": "PKE"}], "type": "journal article", "published": "2019-09-00", "journal": {"volume": "180", "issn": "1552-485X", "issue": "6", "pages": "341-350", "title": "Am. J. Med. Genet. B Neuropsychiatr. Genet.", "issn-l": "1552-4841"}, "abstract": "Neurodevelopmental problems (NPs) are more common in males, whereas anxiety and depression are more common in females. Rare copy number variants (CNVs) have been implicated in neurodevelopmental disorders. The aim of this study was to characterize the relationship between rare CNVs with NPs, anxiety, and depression in a childhood population sample, as well as to examine sex-specific effects. We analyzed a sample of N\u2009=\u200912,982 children, of whom 5.3% had narrowly defined NPs (clinically diagnosed), 20.9% had broadly defined NPs (based on validated screening measures, but no diagnosis), and 3.0% had clinically diagnosed anxiety or depression. Rare (<1% frequency) CNVs were categorized by size (100-500\u2009kb or\u2009>\u2009500\u2009kb), type, and putative relevance to NPs. We tested for association of CNV categories with outcomes and examined sex-specific effects. Medium deletions (OR[CI]\u2009=\u20091.18[1.05-1.33], p\u2009=\u2009.0053) and large duplications (OR[CI]\u2009=\u20091.45[1.19-1.75], p\u2009=\u2009.00017) were associated with broadly defined NPs. Large deletions (OR[CI]\u2009=\u20091.85[1.14-3.01], p\u2009=\u2009.013) were associated with narrowly defined NPs. There were no significant sex differences in CNV burden in individuals with NPs. Although CNVs were not associated with anxiety/depression in the whole sample, in individuals diagnosed with these disorders, females were more likely to have large CNVs (OR[CI]\u2009=\u20093.75[1.45-9.68], p\u2009=\u2009.0064). Rare CNVs are associated with both narrowly and broadly defined NPs in a general population sample of children. Our results also suggest that large, rare CNVs may show sex-specific phenotypic effects.", "doi": "10.1002/ajmg.b.32685", "pmid": "30307693", "labels": {"National Genomics Infrastructure": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "Bioinformatics Support for Computational Resources": "Service"}, "xrefs": [], "notes": [], "created": "2019-09-17T16:24:46.316Z", "modified": "2024-01-16T13:48:43.973Z"}, {"entity": "publication", "iuid": "4aec1dba6cd84d518d4a8fcd4450b703", "links": {"self": {"href": "https://publications.scilifelab.se/publication/4aec1dba6cd84d518d4a8fcd4450b703.json"}, "display": {"href": "https://publications.scilifelab.se/publication/4aec1dba6cd84d518d4a8fcd4450b703"}}, "title": "Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability.", "authors": [{"family": "Zhao", "given": "Jin J", "initials": "JJ", "orcid": "0000-0001-8367-8391", "researcher": {"href": "https://publications.scilifelab.se/researcher/fad3b22c21064a85a351f549bedfc36e.json"}}, {"family": "Halvardson", "given": "Jonatan", "initials": "J"}, {"family": "Zander", "given": "Cecilia S", "initials": "CS"}, {"family": "Zaghlool", "given": "Ammar", "initials": "A"}, {"family": "Georgii-Hemming", "given": "Patrik", "initials": "P"}, {"family": "M\u00e5nsson", "given": "Else", "initials": "E"}, {"family": "Brandberg", "given": "G\u00f6ran", "initials": "G"}, {"family": "S\u00e4vmarker", "given": "Helena E", "initials": "HE"}, {"family": "Frykholm", "given": "Carina", "initials": "C"}, {"family": "Kuchinskaya", "given": "Ekaterina", "initials": "E"}, {"family": "Thuresson", "given": "Ann-Charlotte", "initials": "AC"}, {"family": "Feuk", "given": "Lars", "initials": "L", "orcid": "0000-0003-2355-2919", "researcher": {"href": "https://publications.scilifelab.se/researcher/3eb2f826b3554d4b9971bf0766b275c4.json"}}], "type": "journal article", "published": "2018-01-00", "journal": {"volume": "177", "issn": "1552-485X", "issue": "1", "title": "Am. J. Med. Genet. B Neuropsychiatr. Genet.", "pages": "10-20", "issn-l": "1552-4841"}, "abstract": "Intellectual Disability (ID) is a clinically heterogeneous condition that affects 2-3% of population worldwide. In recent years, exome sequencing has been a successful strategy for studies of genetic causes of ID, providing a growing list of both candidate and validated ID genes. In this study, exome sequencing was performed on 28 ID patients in 27 patient-parent trios with the aim to identify de novo variants (DNVs) in known and novel ID associated genes. We report the identification of 25 DNVs out of which five were classified as pathogenic or likely pathogenic. Among these, a two base pair deletion was identified in the PUF60 gene, which is one of three genes in the critical region of the 8q24.3 microdeletion syndrome (Verheij syndrome). Our result adds to the growing evidence that PUF60 is responsible for the majority of the symptoms reported for carriers of a microdeletion across this region. We also report variants in several genes previously not associated with ID, including a de novo missense variant in NAA15. We highlight NAA15 as a novel candidate ID gene based on the vital role of NAA15 in the generation and differentiation of neurons in neonatal brain, the fact that the gene is highly intolerant to loss of function and coding variation, and previously reported DNVs in neurodevelopmental disorders.", "doi": "10.1002/ajmg.b.32574", "pmid": "28990276", "labels": {"National Genomics Infrastructure": "Service", "NGI Stockholm (Genomics Applications)": "Service", "NGI Stockholm (Genomics Production)": "Service", "NGI Uppsala (Uppsala Genome Center)": "Service", "Bioinformatics Support for Computational Resources": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC5765476"}], "notes": [], "created": "2017-11-02T16:04:48.503Z", "modified": "2024-01-16T13:48:47.230Z"}, {"entity": "publication", "iuid": "62c4803c14d84c888b82c4e4204c5014", "links": {"self": {"href": "https://publications.scilifelab.se/publication/62c4803c14d84c888b82c4e4204c5014.json"}, "display": {"href": "https://publications.scilifelab.se/publication/62c4803c14d84c888b82c4e4204c5014"}}, "title": "Methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and age at onset of schizophrenia: no consistent evidence for an association in the Nordic population.", "authors": [{"family": "Saetre", "given": "Peter", "initials": "P"}, {"family": "Grove", "given": "Jakob", "initials": "J"}, {"family": "B\u00f8rglum", "given": "Anders D", "initials": "AD"}, {"family": "Mors", "given": "Ole", "initials": "O"}, {"family": "Werge", "given": "Thomas", "initials": "T"}, {"family": "Andreassen", "given": "Ole A", "initials": "OA"}, {"family": "Vares", "given": "Maria", "initials": "M"}, {"family": "Agartz", "given": "Ingrid", "initials": "I"}, {"family": "Terenius", "given": "Lars", "initials": "L"}, {"family": "J\u00f6nsson", "given": "Erik G", "initials": "EG"}], "type": "journal article", "published": "2012-12-00", "journal": {"volume": "159B", "issn": "1552-485X", "issue": "8", "pages": "981-986", "title": "Am. J. Med. Genet. B Neuropsychiatr. Genet.", "issn-l": "1552-4841"}, "abstract": "Methylenetetrahydrofolate reductase (MTHFR) is an enzyme involved in metabolic pathways of importance for nucleotide synthesis and methylation of DNA, membranes, proteins and lipids. The MTHFR gene includes a common polymorphism (rs1801133 or C677T), which is associated with enzyme activity. The T-allele of the C677T polymorphism has been associated with earlier age at onset of schizophrenia in a Scandinavian population, although no association was found in replication attempts in other populations. Extending the study to five Nordic samples consisting of 2,198 patients with schizophrenia, including the original Scandinavian samples, there was no significant association between MTHFR C677T polymorphism and age at onset in schizophrenia. The present results do not suggest that the investigated MTHFR polymorphism has any significant influence on age at onset of schizophrenia in the Nordic population.", "doi": "10.1002/ajmg.b.32104", "pmid": "23076983", "labels": {"National Genomics Infrastructure": null, "NGI Uppsala (SNP&SEQ Technology Platform)": null}, "xrefs": [{"db": "pmc", "key": "PMC3739001"}], "notes": [], "created": "2017-05-04T15:00:52.874Z", "modified": "2020-01-21T13:56:02.657Z"}, {"entity": "publication", "iuid": "0c492751e0eb47a2b3ff1ae2cdda416d", "links": {"self": {"href": "https://publications.scilifelab.se/publication/0c492751e0eb47a2b3ff1ae2cdda416d.json"}, "display": {"href": "https://publications.scilifelab.se/publication/0c492751e0eb47a2b3ff1ae2cdda416d"}}, "title": "Association analysis of PALB2 and BRCA2 in bipolar disorder and schizophrenia in a scandinavian case-control sample.", "authors": [{"family": "Tesli", "given": "Martin", "initials": "M"}, {"family": "Athanasiu", "given": "Lavinia", "initials": "L"}, {"family": "Mattingsdal", "given": "Morten", "initials": "M"}, {"family": "K\u00e4hler", "given": "Anna K", "initials": "AK"}, {"family": "Gustafsson", "given": "Omar", "initials": "O"}, {"family": "Andreassen", "given": "Bettina K", "initials": "BK"}, {"family": "Werge", "given": "Thomas", "initials": "T"}, {"family": "Hansen", "given": "Thomas", "initials": "T"}, {"family": "Mors", "given": "Ole", "initials": "O"}, {"family": "Mellerup", "given": "Erling", "initials": "E"}, {"family": "Koefoed", "given": "Pernille", "initials": "P"}, {"family": "J\u00f6nsson", "given": "Erik G", "initials": "EG"}, {"family": "Agartz", "given": "Ingrid", "initials": "I"}, {"family": "Melle", "given": "Ingrid", "initials": "I"}, {"family": "Morken", "given": "Gunnar", "initials": "G"}, {"family": "Djurovic", "given": "Srdjan", "initials": "S"}, {"family": "Andreassen", "given": "Ole A", "initials": "OA"}], "type": "journal article", "published": "2010-10-05", "journal": {"volume": "153B", "issn": "1552-485X", "issue": "7", "pages": "1276-1282", "title": "Am. J. Med. Genet. B Neuropsychiatr. Genet.", "issn-l": "1552-4841"}, "abstract": "A recent genome-wide association study (GWAS) found significant association between the PALB2 SNP rs420259 and bipolar disorder (BD). The intracellular functions of the expressed proteins from the breast cancer risk genes PALB2 and BRCA2 are closely related. Therefore, we investigated the relation between genetic variants in PALB2 and BRCA2 and BD. Due to increasing evidence of genetic overlap between BD and schizophrenia (SCZ), we also investigated association with SCZ. In a Scandinavian case-control sample (n\u2009=\u2009686/2,538) we found the BRCA2 SNP rs9567552 to be significantly associated with BD (Nominal P\u2009=\u20090.00043). Additionally, we replicated the association between PALB2 SNP rs420259 and BD (Nominal P\u2009=\u20090.025). We then combined our sample with another Nordic case-control sample (n\u2009=\u2009435/11,491) from Iceland, and added results from the Wellcome Trust Case Control Consortium (WTCCC) (n\u2009=\u20091,868/2,938) and the STEP-UCL/ED-DUB-STEP2 study (n\u2009=\u20092,558/3,274) in a meta-analysis which revealed a P-value of 1.2\u2009\u00d7\u200910(-5) for association between PALB2 SNP rs420259 and BD (n\u2009=\u20095,547/20,241). Neither the PALB2 SNP rs420259 nor the BRCA2 SNP rs9567552 were nominally significantly associated with the SCZ phenotype in our Scandinavian sample (n\u2009=\u2009781/2,839). Our findings support PALB2 and BRCA2 as risk genes specifically for BD, and suggest that altered DNA repair related to neurogenesis may be involved in BD pathophysiology. \u00a9 2010 Wiley-Liss, Inc.", "doi": "10.1002/ajmg.b.31098", "pmid": "20872766", "labels": {"National Genomics Infrastructure": null, "NGI Uppsala (SNP&SEQ Technology Platform)": null}, "xrefs": [], "notes": [], "created": "2017-05-04T15:00:25.818Z", "modified": "2020-01-21T13:56:00.657Z"}, {"entity": "publication", "iuid": "09a9a03772dd4a6c96457b18949cedff", "links": {"self": {"href": "https://publications.scilifelab.se/publication/09a9a03772dd4a6c96457b18949cedff.json"}, "display": {"href": "https://publications.scilifelab.se/publication/09a9a03772dd4a6c96457b18949cedff"}}, "title": "The tryptophan hydroxylase 1 (TPH1) gene, schizophrenia susceptibility, and suicidal behavior: a multi-centre case-control study and meta-analysis.", "authors": [{"family": "Saetre", "given": "Peter", "initials": "P"}, {"family": "Lundmark", "given": "Per", "initials": "P"}, {"family": "Wang", "given": "August", "initials": "A"}, {"family": "Hansen", "given": "Thomas", "initials": "T"}, {"family": "Rasmussen", "given": "Henrik B", "initials": "HB"}, {"family": "Djurovic", "given": "Srdjan", "initials": "S"}, {"family": "Melle", "given": "Ingrid", "initials": "I"}, {"family": "Andreassen", "given": "Ole A", "initials": "OA"}, {"family": "Werge", "given": "Thomas", "initials": "T"}, {"family": "Agartz", "given": "Ingrid", "initials": "I"}, {"family": "Hall", "given": "H\u00e5kan", "initials": "H"}, {"family": "Terenius", "given": "Lars", "initials": "L"}, {"family": "J\u00f6nsson", "given": "Erik G", "initials": "EG"}], "type": "journal article", "published": "2010-03-05", "journal": {"volume": "153B", "issn": "1552-485X", "issue": "2", "pages": "387-396", "title": "Am. J. Med. Genet. B Neuropsychiatr. Genet.", "issn-l": "1552-4841"}, "abstract": "Serotonin (5-hydroxytryptamin; 5-HT) alternations has since long been suspected in the pathophysiology of schizophrenia. Tryptophan hydroxylase (tryptophan 5-monooxygenase; TPH) is the rate-limiting enzyme in the biosynthesis of 5-HT, and sequence variation in intron 6 of the TPH1 gene has been associated with schizophrenia. The minor allele (A) of this polymorphism (A218C) is also more frequent in patients who have attempted suicide and individuals who died by suicide, than in healthy control individuals. In an attempt to replicate previous findings, five single nucleotide polymorphisms (SNPs) were genotyped in 837 Scandinavian schizophrenia patients and 1,473 controls. Three SNPs spanning intron 6 and 7, including the A218C and A779C polymorphisms, were associated with schizophrenia susceptibility (P = 0.019). However there were no differences in allele frequencies of these loci between affected individuals having attempted suicide at least once and patients with no history of suicide attempts (P = 0.84). A systematic literature review and meta-analysis support the A218C polymorphism as a susceptibility locus for schizophrenia (odds ratio 1.17, 95% confidence interval 1.07-1.29). Association studies on suicide attempts are however conflicting (heterogeneity index I(2) = 0.54) and do not support the A218C/A779C polymorphisms being a susceptibility locus for suicidal behavior among individuals diagnosed with a psychiatric disorder (OR = 0.96 [0.80-1.16]). We conclude that the TPH1 A218/A779 locus increases the susceptibility of schizophrenia in Caucasian and Asian populations. In addition, the data at hand suggest that the locus contributes to the liability of psychiatric disorders characterized by elevated suicidal rates, rather than affecting suicidal behavior of individuals suffering from a psychiatric disorder.", "doi": "10.1002/ajmg.b.30991", "pmid": "19526457", "labels": {"National Genomics Infrastructure": null, "NGI Uppsala (SNP&SEQ Technology Platform)": null}, "xrefs": [], "notes": [], "created": "2017-05-04T15:00:25.510Z", "modified": "2020-01-21T13:56:00.628Z"}, {"entity": "publication", "iuid": "d603403f927947938d9152a4c4dc63d3", "links": {"self": {"href": "https://publications.scilifelab.se/publication/d603403f927947938d9152a4c4dc63d3.json"}, "display": {"href": "https://publications.scilifelab.se/publication/d603403f927947938d9152a4c4dc63d3"}}, "title": "Association between methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and age of onset in schizophrenia.", "authors": [{"family": "Vares", "given": "Maria", "initials": "M"}, {"family": "Saetre", "given": "Peter", "initials": "P"}, {"family": "Deng", "given": "Hong", "initials": "H"}, {"family": "Cai", "given": "Guiqing", "initials": "G"}, {"family": "Liu", "given": "Xiehe", "initials": "X"}, {"family": "Hansen", "given": "Thomas", "initials": "T"}, {"family": "Rasmussen", "given": "Henrik B", "initials": "HB"}, {"family": "Werge", "given": "Thomas", "initials": "T"}, {"family": "Melle", "given": "Ingrid", "initials": "I"}, {"family": "Djurovic", "given": "Srdjan", "initials": "S"}, {"family": "Andreassen", "given": "Ole A", "initials": "OA"}, {"family": "Agartz", "given": "Ingrid", "initials": "I"}, {"family": "Hall", "given": "H\u00e5kan", "initials": "H"}, {"family": "Terenius", "given": "Lars", "initials": "L"}, {"family": "J\u00f6nsson", "given": "Erik G", "initials": "EG"}], "type": "journal article", "published": "2010-03-05", "journal": {"volume": "153B", "issn": "1552-485X", "issue": "2", "pages": "610-618", "title": "Am. J. Med. Genet. B Neuropsychiatr. Genet.", "issn-l": "1552-4841"}, "abstract": "Different lines of evidence indicate that methylenetetrahydrofolate reductase (MTHFR) functional gene polymorphisms, causative in aberrant folate-homocysteine metabolism, are associated with increased vulnerability to several heritable developmental disorders. Opposing views are expressed considering the possible association between MTHFR and susceptibility for schizophrenia. In order to evaluate if age of onset could explain some of this discrepancy we investigated the relationship between two functional MTHFR gene polymorphisms and age at onset in this disorder. Scandinavian patients (n = 820) diagnosed with schizophrenia, schizoaffective disorder, and schizophreniform disorder were investigated. Two functional MTHFR single nucleotide polymorphisms (SNPs; rs1801131 and rs1801133) were genotyped and the effect of MTHFR polymorphisms on the age of onset was examined with survival analysis. In an attempt to replicate the findings from the Scandinavian sample, the association between rs1801133 and age at onset was also analyzed in Chinese high-risk families, with two or more affected siblings (n = 243). Among the Scandinavian patients the functional MTHFR SNP rs1801133 (C677T) significantly affected age at onset of schizophrenia in a dose-dependent manner (P = 0.0015), with lower age of onset with increasing numbers of the mutant T-allele. There was no evidence of rs1801131 (A1298C) affecting age of onset in schizophrenia. Within the Chinese high-risk families carriers of the MTHFR 677T allele showed earlier age at onset than siblings being homozygous for the wild-type allele (P = 0.008). The MTHFR C677T polymorphism may play a role as a modifying factor for age of onset in schizophrenia.", "doi": "10.1002/ajmg.b.31030", "pmid": "19746410", "labels": {"National Genomics Infrastructure": null, "NGI Uppsala (SNP&SEQ Technology Platform)": null}, "xrefs": [], "notes": [], "created": "2017-05-04T15:00:26.122Z", "modified": "2020-01-21T13:56:05.460Z"}, {"entity": "publication", "iuid": "4777d0495b8640e0aa5243cc1d702afb", "links": {"self": {"href": "https://publications.scilifelab.se/publication/4777d0495b8640e0aa5243cc1d702afb.json"}, "display": {"href": "https://publications.scilifelab.se/publication/4777d0495b8640e0aa5243cc1d702afb"}}, "title": "Association study of PDE4B gene variants in Scandinavian schizophrenia and bipolar disorder multicenter case-control samples.", "authors": [{"family": "K\u00e4hler", "given": "Anna K", "initials": "AK"}, {"family": "Otnaess", "given": "Mona K", "initials": "MK"}, {"family": "Wirgenes", "given": "Katrine V", "initials": "KV"}, {"family": "Hansen", "given": "Thomas", "initials": "T"}, {"family": "J\u00f6nsson", "given": "Erik G", "initials": "EG"}, {"family": "Agartz", "given": "Ingrid", "initials": "I"}, {"family": "Hall", "given": "H\u00e5kan", "initials": "H"}, {"family": "Werge", "given": "Thomas", "initials": "T"}, {"family": "Morken", "given": "Gunnar", "initials": "G"}, {"family": "Mors", "given": "Ole", "initials": "O"}, {"family": "Mellerup", "given": "Erling", "initials": "E"}, {"family": "Dam", "given": "Henrik", "initials": "H"}, {"family": "Koefod", "given": "Pernille", "initials": "P"}, {"family": "Melle", "given": "Ingrid", "initials": "I"}, {"family": "Steen", "given": "Vidar M", "initials": "VM"}, {"family": "Andreassen", "given": "Ole A", "initials": "OA"}, {"family": "Djurovic", "given": "Srdjan", "initials": "S"}], "type": "journal article", "published": "2010-01-05", "journal": {"volume": "153B", "issn": "1552-485X", "issue": "1", "pages": "86-96", "title": "Am. J. Med. Genet. B Neuropsychiatr. Genet.", "issn-l": "1552-4841"}, "abstract": "The phosphodiesterase 4B (PDE4B), which is involved in cognitive function in animal models, is a candidate susceptibility gene for schizophrenia (SZ) and bipolar disorder (BP). Variations in PDE4B have previously been associated with SZ, with a suggested gender-specific effect. We have genotyped and analyzed 40 and 72 tagging single nucleotide polymorphisms (tagSNPs) in SZ and BP multicenter samples, respectively, from the Scandinavian Collaboration on Psychiatric Etiology (SCOPE), involving 837 SZ cases and 1,473 controls plus 594 BP cases and 1,421 partly overlapping controls. Six and 16 tagSNPs were nominally associated (0.0005 < or = P < or = 0.05) with SZ and BP, respectively, in the combined samples or in gender-specific subgroups. None of these findings remained significant after correction for multiple testing. However, a number of tagSNPs found to be nominally associated with SZ and BP were located in a high LD region spanning the splice site of PDE4B3, an isoform with altered brain expression in BP patients. Four tagSNPs were associated with SZ in women, but none in men, in agreement with the previously reported gender-specific effect. Proxies of two nominally associated SNPs in the SZ sample were also associated with BP, but the genotypic effect (i.e., homozygosity for the minor allele), pointed in opposite directions. Finally, four SNPs were found to be associated with Positive And Negative Syndrome Scale (PANSS) positive symptom scores in a subgroup of SZ patients (n = 153) or SZ female patients (n = 70). Further studies are needed to evaluate the implicated PDE4B region of interest, for potential involvement in SZ and BP susceptibility.", "doi": "10.1002/ajmg.b.30958", "pmid": "19350560", "labels": {"National Genomics Infrastructure": null, "NGI Uppsala (SNP&SEQ Technology Platform)": null}, "xrefs": [], "notes": [], "created": "2017-05-04T15:00:25.206Z", "modified": "2020-01-21T13:56:02.064Z"}], "created": "2017-05-09T09:12:14.905Z", "modified": "2020-11-27T13:14:05.320Z"}