Aggregative trans-eQTL analysis detects trait-specific target gene sets in whole blood.

ABSTRACT: Large scale genetic association studies have identified many trait-associated variants and understanding the role of these variants in the downstream regulation of gene-expressions can uncover important mediating biological mechanisms. Here we propose ARCHIE, a summary statistic based sparse canonical correlation analysis method to identify sets of gene-expressions trans-regulated by sets of known trait-related genetic variants. Simulation studies show that compared to standard methods, ARCHIE is better suited to identify "core"-like genes through which effects of many other genes may be mediated and can capture disease-specific patterns of genetic associations. By applying ARCHIE to publicly available summary statistics from the eQTLGen consortium, we identify gene sets which have signifi

SUBMITTER: Dutta D 

PROVIDER: S-EPMC9325868 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature