Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci

Nat Commun. 2022 Mar 28;13(1):1644. doi: 10.1038/s41467-022-29143-5.

Abstract

Few studies have explored the impact of rare variants (minor allele frequency < 1%) on highly heritable plasma metabolites identified in metabolomic screens. The Finnish population provides an ideal opportunity for such explorations, given the multiple bottlenecks and expansions that have shaped its history, and the enrichment for many otherwise rare alleles that has resulted. Here, we report genetic associations for 1391 plasma metabolites in 6136 men from the late-settlement region of Finland. We identify 303 novel association signals, more than one third at variants rare or enriched in Finns. Many of these signals identify genes not previously implicated in metabolite genome-wide association studies and suggest mechanisms for diseases and disease-related traits.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, N.I.H., Intramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Finland
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Genome-Wide Association Study* / methods
  • Humans
  • Male
  • Phenotype
  • Polymorphism, Single Nucleotide*