Copy number variants differ in frequency across genetic ancestry groups

Abstract

AbstractCopy number variants (CNVs), which are duplicated or deleted genomic segments larger than 1000 base pairs1, have been implicated in a variety of neuropsychiatric and cognitive phenotypes2-4. In the first large-scale of examination of genome-wide CNV frequencies across ancestry groups, we found that deleterious CNVs are less prevalent in non-European ancestry groups than they are in European ancestry groups of both the UK Biobank (UKBB) and a US replication cohort (SPARK). We also identified specific recurrent CNVs that consistently differ in frequency across ancestry groups in both the UKBB and SPARK. These ancestry-related differences in CNV prevalence present in both an unselected community population and a family cohort enriched with individuals diagnosed with autism spectrum disorder (ASD) strongly suggest that genetic ancestry should be considered when probing associations between CNVs and health outcomes.