Characterization of Exome Variants and Their Metabolic Impact in 6,716 American Indians from the Southwest US.

ABSTRACT: Applying exome sequencing to populations with unique genetic architecture has the potential to reveal novel genes and variants associated with traits and diseases. We sequenced and analyzed the exomes of 6,716 individuals from a Southwestern American Indian (SWAI) population with well-characterized metabolic traits. We found that the SWAI population has distinct allelic architecture compared to populations of European and East Asian ancestry, and there were many predicted loss-of-function (pLOF) and nonsynonymous variants that were highly enriched or private in the SWAI population. We used pLOF and nonsynonymous variants in the SWAI population to evaluate gene-burden associations of candidate genes from European genome-wide association studies (GWASs) for type 2 diabetes, body mass index,

SUBMITTER: Kim HI 

PROVIDER: S-EPMC7413855 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature