Exome-wide analysis of copy number variation shows association of the human leukocyte antigen region with asthma in UK Biobank.

ABSTRACT:

Background

The role of copy number variants (CNVs) in susceptibility to asthma is not well understood. This is, in part, due to the difficulty of accurately measuring CNVs in large enough sample sizes to detect associations. The recent availability of whole-exome sequencing (WES) in large biobank studies provides an unprecedented opportunity to study the role of CNVs in asthma.

Methods

We called common CNVs in 49,953 individuals in the first release of UK Biobank WES using ClinCNV software. CNVs were tested for association with asthma in a stage 1 analysis comprising 7098 asthma cases and 36,578 controls from the first release of sequencing data. Nominally-associated CNVs were then meta-analysed in stage 2 with an additional 17,280 asthma cases and 115,562 controls from the

SUBMITTER: Fawcett KA 

PROVIDER: S-EPMC9124406 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature