{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["8(5)"],"submitter":["Hehl L"],"pubmed_abstract":["<h4>Background</h4>Common variants of the max-like protein X (MLX)-interacting protein-like (MLXIPL) gene, encoding the transcription factor carbohydrate-responsive element-binding protein, have been shown to be associated with plasma triglyceride levels. However, the role of these variants in steatotic liver disease (SLD) is unclear.<h4>Methods</h4>We used a genome-first approach to analyze a variety of metabolic phenotypes and clinical outcomes associated with a common missense variant in MLXIPL, Gln241His, in 2 large biobanks: the UK Biobank and the Penn Medicine Biobank.<h4>Results</h4>Carriers of MLXIPL Gln241His were associated with significantly lower serum levels of triglycerides, apolipoprotein-B, gamma-glutamyl transferase, and alkaline phosphatase. Additionally, MLXIPL Gln241His"],"journal":["Hepatology communications"],"pagination":["e0427"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12333743"],"repository":["biostudies-literature"],"pubmed_title":["A genome-first approach to variants in MLXIPL and their association with hepatic steatosis and plasma lipids."],"pmcid":["PMC12333743"],"pubmed_authors":["Rader DJ","Trautwein C","Vell MS","Schneider CV","Vujkovic M","Creasy KT","Seeling KS","Vitali C","Hehl L","Scorletti E","Conlon D","Zandvakili I","Regeneron Genetics Center","Rendel MD","Schneider KM"],"additional_accession":[]},"is_claimable":false,"name":"A genome-first approach to variants in MLXIPL and their association with hepatic steatosis and plasma lipids.","description":"<h4>Background</h4>Common variants of the max-like protein X (MLX)-interacting protein-like (MLXIPL) gene, encoding the transcription factor carbohydrate-responsive element-binding protein, have been shown to be associated with plasma triglyceride levels. However, the role of these variants in steatotic liver disease (SLD) is unclear.<h4>Methods</h4>We used a genome-first approach to analyze a variety of metabolic phenotypes and clinical outcomes associated with a common missense variant in MLXIPL, Gln241His, in 2 large biobanks: the UK Biobank and the Penn Medicine Biobank.<h4>Results</h4>Carriers of MLXIPL Gln241His were associated with significantly lower serum levels of triglycerides, apolipoprotein-B, gamma-glutamyl transferase, and alkaline phosphatase. Additionally, MLXIPL Gln241His","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 May","modification":"2026-04-15T19:17:02.702Z","creation":"2026-04-07T14:01:13.515Z"},"accession":"S-EPMC12333743","cross_references":{"pubmed":["38668731"],"doi":["10.1097/HC9.0000000000000427"]}}