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Article

Insights into genetic variants associated with NASH-fibrosis from metabolite profiling.

Human molecular genetics - 18 Dec 2020

Mann Jake P, Pietzner Maik, Wittemans Laura B, Rolfe Emmanuela De Lucia, Kerrison Nicola D, Imamura Fumiaki, Forouhi Nita G, Fauman Eric, Allison Michael E, Griffin Jules L, Koulman Albert, Wareham Nicholas J, Langenberg Claudia

Abstract excerpt

Several genetic discoveries robustly implicate five single-nucleotide variants in the progression of non-alcoholic fatty liver disease to non-alcoholic steatohepatitis and fibrosis (NASH-fibrosis), including a recently identified variant in MTARC1. To better understand these variants as potential therapeutic targets, we aimed to characterize their impact on metabolism using comprehensive metabolomics data from...

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Identifiers

PMID: 32720691
DOI: 10.1093/hmg/ddaa162
PMCID: PMC7116726

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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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