Association of protein function-altering variants with cardiometabolic traits: the strong heart study.

ABSTRACT: Clinical and biomarker phenotypic associations for carriers of protein function-altering variants may help to elucidate gene function and health effects in populations. We genotyped 1127 Strong Heart Family Study participants for protein function-altering single nucleotide variants (SNV) and indels selected from a low coverage whole exome sequencing of American Indians. We tested the association of each SNV/indel with 35 cardiometabolic traits. Among 1206 variants (average minor allele count = 20, range of 1 to 1064), ~ 43% were not present in publicly available repositories. We identified seven SNV-trait significant associations including a missense SNV at ABCA10 (rs779392624, p = 8 × 10^-9) associated with fasting triglycerides, which gene product is involved in macrophage lipi

SUBMITTER: Shan Y 

PROVIDER: S-EPMC9167281 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature