Identification of candidate causal variants and target genes at 41 breast cancer risk loci through differential allelic expression analysis.

ABSTRACT: Understanding breast cancer genetic risk relies on identifying causal variants and candidate target genes in risk loci identified by genome-wide association studies (GWAS), which remains challenging. Since most loci fall in active gene regulatory regions, we developed a novel approach facilitated by pinpointing the variants with greater regulatory potential in the disease's tissue of origin. Through genome-wide differential allelic expression (DAE) analysis, using microarray data from 64 normal breast tissue samples, we mapped the variants associated with DAE (daeQTLs). Then, we intersected these with GWAS data to reveal candidate risk regulatory variants and analysed their cis-acting regulatory potential. Finally, we validated our approach by extensive functional analysis of the 5q14.1 br

SUBMITTER: Xavier JM 

PROVIDER: S-EPMC11438911 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature