Statistical and Functional Studies Identify Epistasis of Cardiovascular Risk Genomic Variants From Genome-Wide Association Studies.

ABSTRACT: Background Epistasis describes how gene-gene interactions affect phenotypes, and could have a profound impact on human diseases such as coronary artery disease (CAD). The goal of this study was to identify gene-gene interactions in CAD using an easily generalizable multi-stage approach. Methods and Results Our forward genetic approach consists of multiple steps that combine statistical and functional approaches, and analyze information from global gene expression profiling, functional interactions, and genetic interactions to robustly identify gene-gene interactions. Global gene expression profiling shows that knockdown of ANRIL (DQ485454) at 9p21.3 GWAS (genome-wide association studies) CAD locus upregulates TMEM100 and TMEM106B. Functional studies indicate that the i

SUBMITTER: Li Y 

PROVIDER: S-EPMC7428625 | biostudies-literature | 2020 Apr

REPOSITORIES: biostudies-literature