Positive selection acts on regulatory genetic variants in populations of European ancestry that affect ALDH2 gene expression.

ABSTRACT: ALDH2 is a key enzyme in alcohol metabolism that protects cells from acetaldehyde toxicity. Using iHS, iSAFE and F_ST statistics, we identified regulatory acting variants affecting ALDH2 gene expression under positive selection in populations of European ancestry. Several SNPs (rs3184504, rs4766578, rs10774625, rs597808, rs653178, rs847892, rs2013002) that function as eQTLs for ALDH2 in various tissues showed evidence of strong positive selection. Very large pairwise F_ST values indicated high genetic differentiation at these loci between populations of European ancestry and populations of other global ancestries. Estimating the timing of positive selection on the beneficial alleles suggests that these variants were recently adapted approximately 3000-3700 years ago. Th

SUBMITTER: Schaschl H 

PROVIDER: S-EPMC8927298 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature