Identification of deleterious and regulatory genomic variations in known asthma loci.

ABSTRACT:

Background

Candidate gene and genome-wide association studies have identified hundreds of asthma risk loci. The majority of associated variants, however, are not known to have any biological function and are believed to represent markers rather than true causative mutations. We hypothesized that many of these associated markers are in linkage disequilibrium (LD) with the elusive causative variants.

Methods

We compiled a comprehensive list of 449 asthma-associated variants previously reported in candidate gene and genome-wide association studies. Next, we identified all sequence variants located within the 305 unique genes using whole-genome sequencing data from the 1000 Genomes Project. Then, we calculated the LD between known asthma variants and the sequence variants within

SUBMITTER: Neville MDC 

PROVIDER: S-EPMC6292105 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature