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Complex trait susceptibilities and population diversity in a sample of 4,145 Russians.

Dmitrii UsoltsevNikita KolosovOxana RotarAlexander LobodaMaria BoyarinovaEkaterina MoguchayaEkaterina KolesovaAnastasia ErinaKristina TolkunovaValeriia RezapovaIvan MolotkovOlesya MelnikOlga FreylikhmanNadezhda PaskarAsiiat AlievaElena BaranovaElena BazhenovaOlga BeliaevaElena VasilyevaSofia KibkaloRostislav K SkitchenkoAlina BabenkoAlexey A SergushichevAlena DushinaEkaterina LopinaIrina BasyrovaRoman LibisDmitrii DuplyakovNatalya CherepanovaKati DonnerPaivi LaihoAnna KostarevaAlexandra Olegovna KonradiEvgeny ShlyakhtoAarno PalotieMark J DalyMykyta Artomov
Published in: Nature communications (2024)
The population of Russia consists of more than 150 local ethnicities. The ethnic diversity and geographic origins, which extend from eastern Europe to Asia, make the population uniquely positioned to investigate the shared properties of inherited disease risks between European and Asian ancestries. We present the analysis of genetic and phenotypic data from a cohort of 4,145 individuals collected in three metro areas in western Russia. We show the presence of multiple admixed genetic ancestry clusters spanning from primarily European to Asian and high identity-by-descent sharing with the Finnish population. As a result, there was notable enrichment of Finnish-specific variants in Russia. We illustrate the utility of Russian-descent cohorts for discovery of novel population-specific genetic associations, as well as replication of previously identified associations that were thought to be population-specific in other cohorts. Finally, we provide access to a database of allele frequencies and GWAS results for 464 phenotypes.
Keyphrases
  • genome wide
  • copy number
  • gene expression
  • dna methylation
  • risk assessment
  • electronic health record