{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Rosenthal EA"],"funding":["NHGRI NIH HHS","National Human Genome Research Institute"],"pagination":["11"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC7789246"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["14(1)"],"pubmed_abstract":["<h4>Background</h4>Elevated triglycerides (TG) are associated with, and may be causal for, cardiovascular disease (CVD), and co-morbidities such as type II diabetes and metabolic syndrome. Pathogenic variants in APOA5 and APOC3 as well as risk SNVs in other genes [APOE (rs429358, rs7412), APOA1/C3/A4/A5 gene cluster (rs964184), INSR (rs7248104), CETP (rs7205804), GCKR (rs1260326)] have been shown to affect TG levels. Knowledge of genetic causes for elevated TG may lead to early intervention and targeted treatment for CVD. We previously identified linkage and association of a rare, highly conserved missense variant in SLC25A40, rs762174003, with hypertriglyceridemia (HTG) in a single large family, and replicated this association with rare, highly conserved missense variants in a European Am"],"journal":["BMC medical genomics"],"pubmed_title":["Association between triglycerides, known risk SNVs and conserved rare variation in SLC25A40 in a multi-ancestry cohort."],"pmcid":["PMC7789246"],"funding_grant_id":["U01HG8680","U01HG8672","U01HG8673","U01HG8684","U01HG8676","U01HG8666","U01HG8685","U01HG8664","U01HG004424","U01HG6379","U01 HG011169","U01HG8701","U01HG8679","U01 HG008666","U01HG8657","U01HG004438"],"pubmed_authors":["Sturm AC","Pacheco JA","Fan X","Stanaway IB","Crosslin DR","Wei WQ","Feng QP","Ritchie MD","Connolly JJ","Gordon AS","Grafton J","Hakonarson H","Safarova M","Shah AS","Carrell DS","Jarvik GP","Rasmussen-Torvik LJ","Rosenthal EA","Larson EB","Kullo IJ","Denny JC"],"additional_accession":[]},"is_claimable":false,"name":"Association between triglycerides, known risk SNVs and conserved rare variation in SLC25A40 in a multi-ancestry cohort.","description":"<h4>Background</h4>Elevated triglycerides (TG) are associated with, and may be causal for, cardiovascular disease (CVD), and co-morbidities such as type II diabetes and metabolic syndrome. Pathogenic variants in APOA5 and APOC3 as well as risk SNVs in other genes [APOE (rs429358, rs7412), APOA1/C3/A4/A5 gene cluster (rs964184), INSR (rs7248104), CETP (rs7205804), GCKR (rs1260326)] have been shown to affect TG levels. Knowledge of genetic causes for elevated TG may lead to early intervention and targeted treatment for CVD. We previously identified linkage and association of a rare, highly conserved missense variant in SLC25A40, rs762174003, with hypertriglyceridemia (HTG) in a single large family, and replicated this association with rare, highly conserved missense variants in a European Am","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021 Jan","modification":"2025-05-29T22:13:53.204Z","creation":"2021-02-20T21:34:42Z"},"accession":"S-EPMC7789246","cross_references":{"pubmed":["33407432"],"doi":["10.1186/s12920-020-00854-2"]}}