The common p.Ile291Val variant of ERLIN1 enhances TM6SF2 function and is associated with protection against MASLD.

doi:10.1016/j.medj.2024.04.010

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Article

The common p.Ile291Val variant of ERLIN1 enhances TM6SF2 function and is associated with protection against MASLD.

Med (New York, N.Y.) - 9 Aug 2024

Rendel Miriam Daphne, Vitali Cecilia, Creasy Kate Townsend, Zhang David, Scorletti Eleonora, Huang Helen, Seeling Katharina Sophie, Park Joseph, Hehl Leonida, Vell Mara Sophie, Conlon Donna, Hayat Sikander, Phillips Michael C, Schneider Kai Markus, Rader Daniel J, Schneider Carolin Victoria

Abstract excerpt

BACKGROUND: The ERLIN1 p.Ile291Val single-nucleotide polymorphism (rs2862954) is associated with protection from steatotic liver disease (SLD), but effects of this variant on metabolic phenotypes remain uncertain. METHODS: Metabolic phenotypes and outcomes associated with ERLIN1 p.Ile291Val were analyzed by using a genome-first approach in the UK Biobank (UKB), Penn Medicine BioBank (PMBB), and All of Us cohort....

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Identifiers

PMID: 38776916
DOI: 10.1016/j.medj.2024.04.010

Genes

ERLIN1
TM6SF2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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