Genes with differential expression across ancestries are enriched in ancestry-specific disease effects likely due to gene-by-environment interactions.

ABSTRACT: Multi-ancestry genome-wide association studies (GWASs) have highlighted the existence of variants with ancestry-specific effect sizes. Understanding where and why these ancestry-specific effects occur is fundamental to understanding the genetic basis of human diseases and complex traits. Here, we characterized genes differentially expressed across ancestries (ancDE genes) at the cell-type level by leveraging single-cell RNA-sequencing data in peripheral blood mononuclear cells for 21 individuals with East Asian (EAS) ancestry and 23 individuals with European (EUR) ancestry (172,385 cells); then, we tested whether variants surrounding those genes were enriched in disease variants with ancestry-specific effect sizes by leveraging ancestry-matched GWASs of 31 diseases and complex traits (aver

SUBMITTER: Wang J 

PROVIDER: S-EPMC11480800 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature