Cross-ethnic analysis of common gene variants in hemostasis show lopsided representation of global populations in genetic databases.

ABSTRACT: A majority of studies reporting human genetic variants were performed in populations of European ancestry whereas other global populations, and particularly many ethnolinguistic groups in other continents, are heavily underrepresented in these studies. To investigate the extent of this disproportionate representation of global populations concerning variants of significance to thrombosis and hemostasis, 845 single nucleotide polymorphisms (SNPs) in and around 34 genes associated with thrombosis and hemostasis and included in the commercial Axiom Precision Medicine Research Array (PMRA) were evaluated, using gene frequencies in 3 African (Somali and Luhya in East Africa, and Yoruba in West Africa) and 14 non-African (admixed American, East Asian, European, South Asian, and sub-groups) popul

SUBMITTER: Osman A 

PROVIDER: S-EPMC8957123 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature