{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,31]],"date-time":"2026-10-31T12:28:43Z","timestamp":1793449723616,"version":"4.5.0"},"reference-count":54,"publisher":"American Medical Association (AMA)","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JAMA Psychiatry"],"published-print":{"date-parts":[[2026,8,1]]},"abstract":"<jats:sec id=\"ab-yoi260023-4\">\n                    <jats:title>Importance<\/jats:title>\n                    <jats:p>Although both recurrent copy number variants (rCNVs) and polygenic scores (PGSs) impart risk for psychiatric disorders, it remains unclear how they contribute jointly to this risk.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"ab-yoi260023-5\">\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To estimate and compare absolute risk of psychiatric disorders associated with rCNVs and PGSs, independently and jointly.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"ab-yoi260023-6\">\n                    <jats:title>Design, Setting, and Participants<\/jats:title>\n                    <jats:p>This genetic association study applied data from the Lundbeck Foundation Initiative for Integrative Psychiatric Research (iPSYCH) case-cohort sample of individuals born in Denmark (1981-2008) and followed up until 2015, including all individuals with a hospital diagnosis of attention-deficit\/hyperactivity disorder (ADHD), autism spectrum disorder (ASD), schizophrenia spectrum disorder (SSD), or major depressive disorder (MDD), and a subcohort randomly drawn from the source population. Data were analyzed from September 2023 to May 2025.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"ab-yoi260023-7\">\n                    <jats:title>Exposures<\/jats:title>\n                    <jats:p>Carrier status was determined at 27 autosomal rCNV loci and PGSs for psychiatric (and other) outcomes from neonatal blood samples genotyped on microarrays and summary statistics from published association studies.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"ab-yoi260023-8\">\n                    <jats:title>Main Outcomes and Measures<\/jats:title>\n                    <jats:p>Absolute risks were estimated for ADHD, ASD, MDD, and SSD during follow-up using a weighted survival analysis framework, and joint effects of rCNV carriage and PGSs were assessed by fitting generalized linear models.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"ab-yoi260023-9\">\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      In 94\u202f276 unrelated European-ancestry individuals (mean [SD] age at follow-up, 21.9 [7.0] years; 50\u202f653 male [53.7%]), rCNV carriage was associated with increased risk of ASD, ADHD, and SSD but not MDD (\u03b2 = 0.33; 95% CI, 0.27-0.39; \u03b2 = 0.29; 95% CI, 0.23-0.35; \u03b2 = 0.25; 95% CI, 0.17-0.33; and \u03b2 = 0.04; 95% CI, \u22120.03 to 0.11, respectively); each PGS was positively associated with risk of the corresponding disorder (\u03b2 = 0.14; 95% CI, 0.12-0.16; \u03b2 = 0.28; 95% CI, 0.26-0.30; \u03b2 = 0.28; 95% CI, 0.26-0.30; and \u03b2 = 0.38; 95% CI, 0.36-0.40, respectively). PGSs identified more individuals than rCNV carriage at comparable levels of absolute risk, except for ASD. A negative interaction was observed between 16p13.11 duplication and ADHD-PGS on ADHD risk (\u03b2 = \u22120.51; 95% CI, \u22120.86 to \u22120.16), and there was a trend toward negative rCNV-PGS interaction coefficients across aggregated rCNV groups and each of the 9 most common rCNVs (27 of 39 tests,\n                      <jats:italic toggle=\"yes\">P<\/jats:italic>\n                      binomial\u2009=\u2009.01).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"ab-yoi260023-10\">\n                    <jats:title>Conclusions and Relevance<\/jats:title>\n                    <jats:p>Findings of this genetic association study highlight the complementary value of rCNVs and PGSs for risk assessment in psychiatric disorders, with indications that PGSs can stratify risk among medium- and high-impact rCNV carriers and rCNV-associated risk may, in some instances, be attenuated among individuals with low PGSs.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1001\/jamapsychiatry.2026.1064","type":"journal-article","created":{"date-parts":[[2026,5,27]],"date-time":"2026-05-27T15:30:31Z","timestamp":1779895831000},"page":"827","source":"Crossref","is-referenced-by-count":5,"title":["Recurrent Copy Number Variants and Psychiatric Outcomes in the Context of Polygenic Scores"],"prefix":"10.1001","volume":"83","author":[{"given":"Morteza","family":"Vaez","sequence":"first","affiliation":[{"name":"Institute of Biological Psychiatry, Mental Health Center Sct Hans, Amager-Hvidovre Hospital, Copenhagen University Hospital, Roskilde, Denmark"},{"name":"The Lundbeck Foundation Initiative for Integrative Psychiatric Research (iPSYCH), Copenhagen and Aarhus, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simone","family":"Montalbano","sequence":"additional","affiliation":[{"name":"Institute of Biological Psychiatry, Mental Health Center Sct Hans, Amager-Hvidovre Hospital, Copenhagen University Hospital, 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