{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,31]],"date-time":"2026-10-31T12:28:44Z","timestamp":1793449724414,"version":"4.5.0"},"reference-count":31,"publisher":"American Medical Association (AMA)","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JAMA Psychiatry"],"published-print":{"date-parts":[[2024,10,1]]},"abstract":"<jats:sec id=\"ab-yoi240033-4\">\n                    <jats:title>Importance<\/jats:title>\n                    <jats:p>Recurrent copy number variants (rCNVs) have been associated with increased risk of psychiatric disorders in case-control studies, but their population-level impact is unknown.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"ab-yoi240033-5\">\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To provide unbiased population-based estimates of prevalence and risk associated with psychiatric disorders for rCNVs and to compare risks across outcomes, rCNV dosage type (deletions or duplications), and locus features.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"ab-yoi240033-6\">\n                    <jats:title>Design, Setting, and Participants<\/jats:title>\n                    <jats:p>This genetic association study is an analysis of data from the Lundbeck Foundation Initiative for Integrative Psychiatric Research (iPSYCH) case-cohort sample of individuals born in Denmark in 1981-2008 and followed up until 2015, including (1) all individuals (n\u2009=\u200992\u202f531) with a hospital discharge diagnosis of attention-deficit\/hyperactivity disorder (ADHD), autism spectrum disorder (ASD), bipolar disorder, major depressive disorder (MDD), or schizophrenia spectrum disorder (SSD) and (2) a subcohort (n\u2009=\u200950\u202f625) randomly drawn from the source population. Data were analyzed from January 2021 to August 2023.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"ab-yoi240033-7\">\n                    <jats:title>Exposures<\/jats:title>\n                    <jats:p>Carrier status of deletions and duplications at 27 autosomal rCNV loci was determined from neonatal blood samples genotyped on single-nucleotide variant microarrays.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"ab-yoi240033-8\">\n                    <jats:title>Main Outcomes and Measures<\/jats:title>\n                    <jats:p>Population-based rCNV prevalence was estimated with a survey model using finite population correction to account for oversampling of cases. Hazard ratio (HR) estimates and 95% CIs for psychiatric disorders were derived using weighted Cox proportional hazard models. Risks were compared across outcomes, dosage type, and locus features using generalized estimating equation models.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"ab-yoi240033-9\">\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>A total of 3547 rCNVs were identified in 64\u202f735 individuals assigned male at birth (53.8%) and 55\u202f512 individuals assigned female at birth (46.2%) whose age at the end of follow-up ranged from 7.0 to 34.7 years (mean, 21.8 years). Most observed increases in rCNV-associated risk for ADHD, ASD, or SSD were moderate, and risk estimates were highly correlated across these disorders. Notable exceptions included high ASD-associated risk observed for Prader-Willi\/Angelman syndrome duplications (HR, 20.8; 95% CI, 7.9-55). No rCNV was associated with increased MDD risk. Also, rCNV-associated risk was positively correlated with locus size and gene constraint but not with dosage type. Comparison with published case-control and community-based studies revealed a higher prevalence of deletions and lower associated increase in risk for several rCNVs in iPSYCH2015.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"ab-yoi240033-10\">\n                    <jats:title>Conclusions and Relevance<\/jats:title>\n                    <jats:p>This study found that several rCNVs were more prevalent and conferred less risk of psychiatric disorders than estimated previously. Most case-control studies overestimate rCNV-associated risk of psychiatric disorders, likely because of selection bias. In an era where genetics is increasingly being clinically applied, these results highlight the importance of population-based risk estimates for genetics-based predictions.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1001\/jamapsychiatry.2024.1453","type":"journal-article","created":{"date-parts":[[2024,6,26]],"date-time":"2024-06-26T11:34:15Z","timestamp":1719401655000},"page":"957","source":"Crossref","is-referenced-by-count":38,"title":["Population-Based Risk of Psychiatric Disorders Associated With Recurrent Copy Number Variants"],"prefix":"10.1001","volume":"81","author":[{"given":"Morteza","family":"Vaez","sequence":"first","affiliation":[{"name":"Institute of Biological Psychiatry, Mental Health Services, Copenhagen University Hospital, Roskilde, Denmark"},{"name":"Lundbeck Foundation Initiative for Integrative Psychiatric Research (iPSYCH), Copenhagen and Aarhus, 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