biostudies-literatureShan YNIDDK NIH HHSNHLBI NIH HHSNIMHD NIH HHSNational Institutes of HealthNIH HHS9317https://www.ebi.ac.uk/biostudies/studies/S-EPMC9167281biostudies-literatureUnknown12(1)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 lipiScientific reportsAssociation of protein function-altering variants with cardiometabolic traits: the strong heart study.PMC916728175N92019D00028R01 DK117445R01 HL10931575N92019D0002775N92019D00029R01 HL109301R01 HL109284R01 HL109282U01 HL041652R01 MD012765U01 HL065520U01 HL041642U01 HL065521U01 HL041654HL14038575N92019D00030R21 HL140385R01 HL109319Cole SABizon CBest LGFranceschini NSanna SKobes SKoroglu CShan YLi YHaack KHanson RLMelton PEBaier LJfalseAssociation of protein function-altering variants with cardiometabolic traits: the strong heart study.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 lipi2022-01-01T00:00:00Z2022 Jun2026-05-10T01:38:38.666Z2025-02-19T01:12:09.392ZS-EPMC91672813566575210.1038/s41598-022-12866-2