Genome-wide association study for circulating metabolic traits in 619,372 individuals.

ABSTRACT: Interpreting genetic associations with complex traits can be greatly improved by detailed understanding of the molecular consequences of these variants. However, although genome-wide association studies (GWAS) for common complex diseases routinely profile 1M+ individuals, studies of molecular phenotypes have lagged behind. We performed a GWAS meta-analysis for 249 circulating metabolic traits in the Estonian Biobank and the UK Biobank in up to 619,372 individuals, identifying 88,604 significant locus-metabolite associations and 8,774 independent lead variants, including 987 lead variants with a minor allele frequency less than 1%. We demonstrate how common and low-frequency associations converge on shared genes and pathways, bridging the gap between rare-variant burden testing and common-v

SUBMITTER: Tambets R 

PROVIDER: S-EPMC12036396 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature