Recurrent Copy Number Variants and Psychiatric Outcomes in the Context of Polygenic Scores

How do recurrent copy number variants (rCNVs) and polygenic scores (PGSs) compare and interact as genetic risk factors for psychiatric disorders in the population?In a large population-based genetic association study of 94 276 participants, both PGSs and rCNVs were associated with absolute risk of psychiatric disorders, with PGSs identifying at-risk individuals at a higher rate for attention-deficit/hyperactivity disorder, depression, and schizophrenia but not autism. There was no consistent statistical evidence of interactions between rCNVs and PGSs.Findings suggest that PGSs and rCNVs play broadly complementary roles in risk prediction in psychiatry, with PGSs being able to stratify risk among carriers of medium- and high-impact rCNVs.

Corresponding Authors: Morteza Vaez, PhD (seyedmorteza.vaez@regionh.dk), and Andrés Ingason, PhD (andres.ingason@regionh.dk), Institute of Biological Psychiatry, Mental Health Center Sct Hans, Amager-Hvidovre Hospital, Boserupvej 2, DK-4000 Roskilde, Denmark.

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