# Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

* Corresponding author
Abstract : Copy number variants (CNVs) account for a major proportion of human genetic polymorphism and have been predicted to have an important role in genetic susceptibility to common disease. To address this we undertook a large, direct genome-wide study of association between CNVs and eight common human diseases. Using a purpose-designed array we typed $\sim$19,000 individuals into distinct copy-number classes at 3,432 polymorphic CNVs, including an estimated $\sim$50% of all common CNVs larger than 500 base pairs. We identified several biological artefacts that lead to false-positive associations, including systematic CNV differences between DNAs derived from blood and cell lines. Association testing and follow-up replication analyses confirmed three loci where CNVs were associated with disease, IRGM for Crohn's disease, HLA for Crohn's disease, rheumatoid arthritis and type 1 diabetes, and TSPAN8 for type 2 diabetes, although in each case the locus had previously been identified in single nucleotide polymorphism (SNP)-based studies, reflecting our observation that most common CNVs that are well-typed on our array are well tagged by SNPs and so have been indirectly explored through SNP studies. We conclude that common CNVs that can be typed on existing platforms are unlikely to contribute greatly to the genetic basis of common human diseases
Document type :
Journal articles
Domain :

Cited literature [33 references]

https://hal-cea.archives-ouvertes.fr/cea-00907339
Contributor : Bruno Savelli <>
Submitted on : Tuesday, September 24, 2019 - 2:30:25 PM
Last modification on : Monday, February 10, 2020 - 6:12:57 PM
Long-term archiving on: : Sunday, February 9, 2020 - 9:28:49 PM

### File

lat.pdf
Publisher files allowed on an open archive

### Citation

Mark Lathrop, Peter Donnelly, Chris Yau. Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Nature, Nature Publishing Group, 2010, 464 (7289), pp.713-720. ⟨10.1038/nature08979⟩. ⟨cea-00907339⟩

Record views