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

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 approximately 19,000 individuals into distinct copy-number classes at 3,432 polymorphic CNVs, including an estimated approximately 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 associat

SUBMITTER: Wellcome Trust Case Control Consortium 

PROVIDER: S-EPMC2892339 | biostudies-literature | 2010 Apr

REPOSITORIES: biostudies-literature