{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Wang X"],"funding":["American Heart Association","NHLBI NIH HHS","NIH HHS","U.S. Department of Health & Human Services | National Institutes of Health"],"pagination":["565-570"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10524735"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["68(8)"],"pubmed_abstract":["All of Us is a biorepository aiming to advance biomedical research by providing various types of data in diverse human populations. Here we present a demonstration project validating the program's genomic data in 98,622 participants. We sought to replicate known genetic associations for three diseases (atrial fibrillation [AF], coronary artery disease, type 2 diabetes [T2D]) and two quantitative traits (height and low-density lipoprotein [LDL]) by conducting common and rare variant analyses. We identified one known risk locus for AF, five loci for T2D, 143 loci for height, and nine loci for LDL. In gene-based burden tests for rare loss-of-function variants, we replicated associations between TTN and AF, GIGYF1 and T2D, ADAMTS17, ACAN, NPR2 and height, APOB, LDLR, PCSK9 and LDL. Our results"],"journal":["Journal of human genetics"],"pubmed_title":["Common and rare variants associated with cardiometabolic traits across 98,622 whole-genome sequences in the All of Us research program."],"pmcid":["PMC10524735"],"funding_grant_id":["OT2 OD026548","OT2 OD025315","OT2 OD025337","OT2 OD026549","R01HL157635","OT2 OD025277","OT2 OD025276","18SFRN34110082","R01 HL139731","U24 OD023121","1R01HL157635","U24 OD023163","U2C OD023196","OT2 OD026555","R01HL139731","OT2 OD026554","OT2 OD026557","OT2 OD026556","R01 HL157635","1RO1HL092577","OT2 OD023205","OT2 OD023206","R01 HL092577","OT2 OD026551","OT2 OD026550","OT2 OD026553","OT2 OD026552","U24 OD023176"],"pubmed_authors":["Talavera GA","Ryu J","Condon H","Ellinor PT","Kim J","Ohno-Machado L","Choi SH","Vaitinadin NS","All of Us Research Program","Ramirez A","Wang X","Mayo KR","Lubitz SA"],"additional_accession":[]},"is_claimable":false,"name":"Common and rare variants associated with cardiometabolic traits across 98,622 whole-genome sequences in the All of Us research program.","description":"All of Us is a biorepository aiming to advance biomedical research by providing various types of data in diverse human populations. Here we present a demonstration project validating the program's genomic data in 98,622 participants. We sought to replicate known genetic associations for three diseases (atrial fibrillation [AF], coronary artery disease, type 2 diabetes [T2D]) and two quantitative traits (height and low-density lipoprotein [LDL]) by conducting common and rare variant analyses. We identified one known risk locus for AF, five loci for T2D, 143 loci for height, and nine loci for LDL. In gene-based burden tests for rare loss-of-function variants, we replicated associations between TTN and AF, GIGYF1 and T2D, ADAMTS17, ACAN, NPR2 and height, APOB, LDLR, PCSK9 and LDL. Our results","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 Aug","modification":"2026-05-29T14:06:09.28Z","creation":"2025-02-19T00:11:09.286Z"},"accession":"S-EPMC10524735","cross_references":{"pubmed":["37072623"],"doi":["10.1038/s10038-023-01147-z"]}}