{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Shan Y"],"funding":["NIDDK NIH HHS","NHLBI NIH HHS","NIMHD NIH HHS","National Institutes of Health","NIH HHS"],"pagination":["9317"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9167281"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["12(1)"],"pubmed_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<sup>-9</sup>) associated with fasting triglycerides, which gene product is involved in macrophage lipi"],"journal":["Scientific reports"],"pubmed_title":["Association of protein function-altering variants with cardiometabolic traits: the strong heart study."],"pmcid":["PMC9167281"],"funding_grant_id":["75N92019D00028","R01 DK117445","R01 HL109315","75N92019D00027","75N92019D00029","R01 HL109301","R01 HL109284","R01 HL109282","U01 HL041652","R01 MD012765","U01 HL065520","U01 HL041642","U01 HL065521","U01 HL041654","HL140385","75N92019D00030","R21 HL140385","R01 HL109319"],"pubmed_authors":["Cole SA","Bizon C","Best LG","Franceschini N","Sanna S","Kobes S","Koroglu C","Shan Y","Li Y","Haack K","Hanson RL","Melton PE","Baier LJ"],"additional_accession":[]},"is_claimable":false,"name":"Association of protein function-altering variants with cardiometabolic traits: the strong heart study.","description":"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<sup>-9</sup>) associated with fasting triglycerides, which gene product is involved in macrophage lipi","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Jun","modification":"2026-05-10T01:38:38.666Z","creation":"2025-02-19T01:12:09.392Z"},"accession":"S-EPMC9167281","cross_references":{"pubmed":["35665752"],"doi":["10.1038/s41598-022-12866-2"]}}