{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T18:37:25Z","timestamp":1787164645126,"version":"build-2736575974"},"reference-count":43,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2014,7,23]],"date-time":"2014-07-23T00:00:00Z","timestamp":1406073600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"The Danish Council for Independent Research | Medical Sciences.","award":["NA"],"award-info":[{"award-number":["NA"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Bipolar Disorders"],"published-print":{"date-parts":[[2015,3]]},"abstract":"\n Objectives<\/jats:title>\n \n Breakpoints of chromosomal abnormalities facilitate identification of novel candidate genes for psychiatric disorders. Genome\u2010wide significant evidence supports the linkage between chromosome 17q25.3 and bipolar disorder (\n BD<\/jats:styled-content>\n ). Co\u2010segregation of translocation t(9;17)(q33.2;q25.3) with psychiatric disorders has been reported. We aimed to narrow down these chromosomal breakpoint regions and to investigate the associations between single nucleotide polymorphisms within these regions and\n BD<\/jats:styled-content>\n as well as schizophrenia (\n SZ<\/jats:styled-content>\n ) in large genome\u2010wide association study samples.\n <\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n \n We cross\u2010linked Danish psychiatric and cytogenetic case registers to identify an individual with both t(9;17)(q33.2;q25.3) and\n BD<\/jats:styled-content>\n . Fluorescent\n in situ<\/jats:italic>\n hybridization was employed to map the chromosomal breakpoint regions of this proband. We accessed the Psychiatric Genomics Consortium\n BD<\/jats:styled-content>\n (n\u00a0=\u00a016,731) and\n SZ<\/jats:styled-content>\n (n\u00a0=\u00a021,856) data. Genetic associations between these disorders and single nucleotide polymorphisms within these breakpoint regions were analysed by BioQ,\n FORGE<\/jats:styled-content>\n , and Regulome\n DB<\/jats:styled-content>\n programmes.\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n Four protein\u2010coding genes [coding for (endonuclease V (\n \n ENDOV<\/jats:italic>\n )\n <\/jats:styled-content>\n , neuronal pentraxin I (\n \n NPTX<\/jats:styled-content>\n 1\n <\/jats:italic>\n ), ring finger protein 213 (\n \n RNF<\/jats:styled-content>\n 213\n <\/jats:italic>\n ), and regulatory\u2010associated protein of mammalian target of rapamycin (mTOR) (\n \n RPTOR<\/jats:styled-content>\n <\/jats:italic>\n )] were found to be located within the 17q25.3 breakpoint region.\n \n NPTX<\/jats:styled-content>\n 1\n <\/jats:italic>\n was significantly associated with\n BD (p\u00a0=\u00a00.004)<\/jats:styled-content>\n , while\n \n ENDOV<\/jats:styled-content>\n <\/jats:italic>\n was significantly associated with\n SZ<\/jats:styled-content>\n (p\u00a0=\u00a00.0075) after Bonferroni correction.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n \n Prior linkage evidence and our findings suggest\n \n NPTX<\/jats:styled-content>\n 1\n <\/jats:italic>\n as a novel candidate gene for\n BD<\/jats:styled-content>\n .\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1111\/bdi.12239","type":"journal-article","created":{"date-parts":[[2014,7,23]],"date-time":"2014-07-23T02:13:02Z","timestamp":1406081582000},"page":"205-211","source":"Crossref","is-referenced-by-count":23,"title":["Analysis of t(9;17)(q33.2;q25.3) chromosomal breakpoint regions and genetic association reveals novel candidate genes for bipolar disorder"],"prefix":"10.1111","volume":"17","author":[{"given":"Anto P","family":"Rajkumar","sequence":"first","affiliation":[{"name":"Department of Biomedicine Institute of Human Genetics Aarhus University Aarhus Denmark"},{"name":"Translational Neuropsychiatry Unit Department of Clinical Medicine Aarhus University Risskov Denmark"},{"name":"The Lundbeck Foundation Initiative for Integrative Psychiatric Research iPSYCH Aarhus Denmark"},{"name":"Centre for Integrative Sequencing iSEQ Aarhus University Aarhus Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jane H","family":"Christensen","sequence":"additional","affiliation":[{"name":"Department of Biomedicine Institute of Human Genetics Aarhus University Aarhus Denmark"},{"name":"The Lundbeck Foundation Initiative for Integrative Psychiatric Research iPSYCH Aarhus Denmark"},{"name":"Centre for Integrative Sequencing iSEQ Aarhus University Aarhus Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manuel","family":"Mattheisen","sequence":"additional","affiliation":[{"name":"Department of Biomedicine Institute of Human Genetics Aarhus University Aarhus Denmark"},{"name":"The Lundbeck Foundation Initiative for Integrative Psychiatric Research iPSYCH Aarhus Denmark"},{"name":"Centre for Integrative Sequencing iSEQ Aarhus University Aarhus Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iben","family":"Jacobsen","sequence":"additional","affiliation":[{"name":"Translational Neuropsychiatry Unit Department of Clinical Medicine Aarhus University Risskov Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iben","family":"Bache","sequence":"additional","affiliation":[{"name":"Wilhelm Johannsen Centre for Functional Genome Research Department of Cellular and Molecular Medicine Faculty of Health Science University of Copenhagen Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonatan","family":"Pallesen","sequence":"additional","affiliation":[{"name":"Department of Biomedicine Institute of Human Genetics Aarhus University Aarhus Denmark"},{"name":"The Lundbeck Foundation Initiative for Integrative Psychiatric Research iPSYCH Aarhus Denmark"},{"name":"Centre for Integrative Sequencing iSEQ Aarhus University Aarhus Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jakob","family":"Grove","sequence":"additional","affiliation":[{"name":"Department of Biomedicine Institute of Human Genetics Aarhus University Aarhus Denmark"},{"name":"The Lundbeck Foundation Initiative for Integrative Psychiatric Research iPSYCH Aarhus Denmark"},{"name":"Centre for Integrative Sequencing iSEQ Aarhus University Aarhus Denmark"},{"name":"Bioinformatics Research Centre (BiRC) Aarhus University Aarhus Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Per","family":"Qvist","sequence":"additional","affiliation":[{"name":"Department of Biomedicine Institute of Human Genetics Aarhus University Aarhus Denmark"},{"name":"The Lundbeck Foundation Initiative for Integrative Psychiatric Research iPSYCH Aarhus Denmark"},{"name":"Centre for Integrative Sequencing iSEQ Aarhus University Aarhus Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1567-2240","authenticated-orcid":false,"given":"Andrew","family":"McQuillin","sequence":"additional","affiliation":[{"name":"Molecular Psychiatry Laboratory Division of Psychiatry University College London London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hugh M","family":"Gurling","sequence":"additional","affiliation":[{"name":"Molecular Psychiatry Laboratory Division of Psychiatry University College London London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zeynep","family":"T\u00fcmer","sequence":"additional","affiliation":[{"name":"Applied Molecular Genetics Kennedy Center Copenhagen University Hospital Rigshospitalet Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ole","family":"Mors","sequence":"additional","affiliation":[{"name":"The Lundbeck Foundation Initiative for Integrative Psychiatric 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