| Title: | Copy-number variants differ in frequency across genetic ancestry groups |
| Journal: | Human Genetics and Genomics Advances |
| Published: | 12 Aug 2024 |
| Pubmed: | https://pubmed.ncbi.nlm.nih.gov/39138864/ |
| DOI: | https://doi.org/10.1016/j.xhgg.2024.100340 |
Publication 12998
WARNING: the interactive features of this website use CSS3, which your browser does not support. To use the full features of this website, please update your browser.
Abstract
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.</p>
8 Keywords
- Autism Spectrum Disorder
- Cohort Studies
- DNA Copy Number Variations
- Female
- Genetic Predisposition to Disease
- Humans
- Male
- White People
10 Authors
- Laura M. Schultz
- Alexys Knighton
- Guillaume Huguet
- Zohra Saci
- Martineau Jean-Louis
- Josephine Mollon
- Emma E.M. Knowles
- David C. Glahn
- Sébastien Jacquemont
- Laura Almasy
1 Application
| Application ID | Title |
|---|---|
| 40980 | Rare deleterious CNVs share some overlapping effects on brain structure. |
Enabling scientific discoveries that improve human health