medRxiv : the preprint server for health sciences · 2023
Population-based Risk of Psychiatric Disorders Associated with Recurrent CNVs.
ПрепринтСтатьяНазвание и аннотация: Перевод в очереди
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Vaez Morteza, Montalbano Simone, Sánchez Xabier Calle, Georgii Hellberg Kajsa-Lotta, Rasekhi Dehkordi Saeid, Dybdahl Krebs Morten, Meijsen Joeri, Shorter John, Byberg-Grauholm Jonas, Mortensen Preben B, Børglum Anders D, Hougaard David M, Nordentoft Merete, Geschwind Daniel H, Buil Alfonso, Schork Andrew J, iPSYCH Investigators, Helenius Dorte, Raznahan Armin, Thompson Wesley K, Werge Thomas, Ingason Andrés
Аннотация
Recurrent copy number variants (rCNVs) are associated with increased risk of neuropsychiatric disorders but their pathogenic population-level impact is unknown. We provide population-based estimates of rCNV-associated risk of neuropsychiatric disorders for 34 rCNVs in the iPSYCH2015 case-cohort sample (n=120,247). Most observed significant increases in rCNV-associated risk for ADHD, autism or schizophrenia were moderate (HR:1.42-5.00), and risk estimates were highly correlated across these disorders, the most notable exception being high autism-associated risk with Prader-Willi/Angelman Syndrome duplications (HR=20.8). No rCNV was associated with significant increase in depression risk. Also, rCNV-associated risk was positively correlated with locus size and gene constraint. Comparison with published rCNV studies suggests that prevalence of some rCNVs is higher, and risk of psychiatric disorders lower, than previously estimated. In an era where genetics is increasingly being clinically applied, our results highlight the importance of population-based risk estimates for genetics-based predictions.