Copy-number variants differ in frequency across genetic ancestry groups
Copy-number variants (CNVs) have been implicated in a variety of neuropsychiatric and cognitive phenotypes. 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.
Authors
- Laura Almasy (ORCID: https://orcid.org/0000-0002-9184-8124)
- Guillaume Huguet (ORCID: https://orcid.org/0000-0003-2126-5000)
- Zohra Saci (ORCID: https://orcid.org/0000-0003-2788-1306)
- Martineau Jean‐Louis (ORCID: https://orcid.org/0000-0002-3305-3307)
- Josephine Mollon (ORCID: https://orcid.org/0000-0003-4557-1838)
- Emma E. M. Knowles (ORCID: https://orcid.org/0000-0003-0642-267X)
- David C. Glahn (ORCID: https://orcid.org/0000-0002-4749-6977)
- Sébastien Jacquemont (ORCID: https://orcid.org/0000-0001-6838-8767)
- Laura M. Schultz (ORCID: https://orcid.org/0000-0001-7506-8235)
- Alexys Knighton
Institutions
- Boston Children's Hospital (US)
- Children's Hospital of Philadelphia (US)
- Centre Hospitalier Universitaire Sainte-Justine (CA)
- Université de Montréal (CA)
- University of Pennsylvania (US)
Publication Details
- Journal
- Human Genetics and Genomics Advances
- Published
- 2024-08-12
- DOI
- https://doi.org/10.1016/j.xhgg.2024.100340
- Citations
- 3
- Primary Topic
- Genomic variations and chromosomal abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 1.65
Funders
- Simons Foundation Autism Research Initiative
- National Institute of Mental Health