Convergence of coronary artery disease genes onto endothelial cell programs.

ABSTRACT: Linking variants from genome-wide association studies (GWAS) to underlying mechanisms of disease remains a challenge^1-3. For some diseases, a successful strategy has been to look for cases in which multiple GWAS loci contain genes that act in the same biological pathway^1-6. However, our knowledge of which genes act in which pathways is incomplete, particularly for cell-type-specific pathways or understudied genes. Here we introduce a method to connect GWAS variants to functions. This method links variants to genes using epigenomics data, links genes to pathways de novo using Perturb-seq and integrates these data to identify convergence of GWAS loci onto pathways. We apply this approach to study the role of endothelial cells in genetic risk for coronary artery disease

SUBMITTER: Schnitzler GR 

PROVIDER: S-EPMC10921916 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature