biostudies-literatureMollon JNICHD NIH HHSNIMH NIH HHSNational Institute of Mental Health591-600https://www.ebi.ac.uk/biostudies/studies/S-EPMC10409883biostudies-literatureUnknown94(7)<h4>Background</h4>Our understanding of the impact of copy number variants (CNVs) on psychopathology and their joint influence with polygenic risk scores (PRSs) remains limited.<h4>Methods</h4>The UK Biobank recruited 502,534 individuals ages 37 to 73 years living in the United Kingdom between 2006 and 2010. After quality control, genotype data from 459,855 individuals were available for CNV calling. A total of 61 commonly studied recurrent neuropsychiatric CNVs were selected for analyses and examined individually and in aggregate (any CNV, deletion, or duplication). CNV risk scores were used to quantify intolerance of CNVs to haploinsufficiency. Major depressive disorder and generalized anxiety disorder PRSs were generated for White British individuals (N = 408,870). Mood/anxiety factor sBiological psychiatryImpact of Copy Number Variants and Polygenic Risk Scores on Psychopathology in the UK Biobank.PMC10409883U01 MH119690U01 MH119739P50 HD105351U01-MH119690Huguet GMathias SRRodrigue ASaci ZAlmasy LJean-Louis MSchultz LMMollon JKumar KAlexander-Bloch ADouard EKnowles EEMGlahn DCJacquemont SfalseImpact of Copy Number Variants and Polygenic Risk Scores on Psychopathology in the UK Biobank.<h4>Background</h4>Our understanding of the impact of copy number variants (CNVs) on psychopathology and their joint influence with polygenic risk scores (PRSs) remains limited.<h4>Methods</h4>The UK Biobank recruited 502,534 individuals ages 37 to 73 years living in the United Kingdom between 2006 and 2010. After quality control, genotype data from 459,855 individuals were available for CNV calling. A total of 61 commonly studied recurrent neuropsychiatric CNVs were selected for analyses and examined individually and in aggregate (any CNV, deletion, or duplication). CNV risk scores were used to quantify intolerance of CNVs to haploinsufficiency. Major depressive disorder and generalized anxiety disorder PRSs were generated for White British individuals (N = 408,870). Mood/anxiety factor s2023-01-01T00:00:00Z2023 Oct2025-04-04T11:34:42.841Z2025-04-04T11:34:42.841ZS-EPMC104098833676456810.1016/j.biopsych.2023.01.028