Citation

Liu X, Li Y. BMC Genomics 2023; 24(1): e652.

Copyright

(Copyright © 2023, Holtzbrinck Springer Nature Publishing Group - BMC)

DOI

10.1186/s12864-023-09766-8

PMID

37904118

Abstract

Genome-wide association studies (GWAS) have identified many genetic variants associated with alcohol consumption in Europeans and East Asians, as well as other populations. However, the genetic homogeneity and heterogeneity between these populations have not been thoroughly investigated, despite evidence of varying effect sizes of variants between ethnicities and the presence of population-specific strong signals of selection on loci associated with alcohol consumption. In order to better understand the relationship between Europeans and East Asians in the genetic architecture of alcohol consumption, we compared their heritability and evaluated their genetic correlation using GWAS results from UK Biobank (UKB) and Biobank Japan (BBJ). We found that these two populations have low genetic correlation due to the large difference on chromosome 12. After excluding this chromosome, the genetic correlation was moderately high ([Formula: see text] = 0.544, p = 1.12e-4) and 44.31% of the genome-wide causal variants were inferred to be shared between Europeans and East Asians. Given those observations, we conducted a meta-analysis on UKB and BBJ and identified new signals, including the CADM2 gene on chromosome 3, which has been associated with various behavioral and metabolic traits. Overall, our findings suggest that the genetic architecture of alcohol consumption is largely shared between Europeans and East Asians, but there are exceptions such as the enrichment of heritability on chromosome 12 in East Asians.

Language: en

Keywords

Humans; *East Asian People; *Genome-Wide Association Study; Alcohol consumption; Alcohol Drinking/genetics; Ethnicity/genetics; European People; Genetic architecture; Genetic correlation; Genetic Predisposition to Disease; Multi-ancestry meta-analysis; Polymorphism, Single Nucleotide