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Article

PNPLA3 p.I148M and TM6SF2 p.E167K variants do not predispose to liver injury in cholestatic liver diseases: A prospective analysis of 178 patients with PSC.

PloS one - 1 Jan 2018

Kruk Beata, Liebe Roman, Milkiewicz Małgorzata, Wunsch Ewa, Raszeja-Wyszomirska Joanna, Lammert Frank, Milkiewicz Piotr, Krawczyk Marcin

Abstract excerpt

BACKGROUND: The adiponutrin (PNPLA3) p.I148M and transmembrane 6 superfamily member 2 (TM6SF2) p.E167K variants represent major genetic risk factors for progressive liver injury in nonalcoholic fatty liver disease (NAFLD), alcoholic liver disease (ALD) and chronic viral hepatitis. The aim of this study was to find out whether these variants have a detrimental impact on the progression of chronic liver disease in...

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Identifiers

PMID: 30161167
DOI: 10.1371/journal.pone.0202942
PMCID: PMC6117000

Genes

PNPLA3

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.

Related research

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PNPLA3 p.I148M and TM6SF2 p.E167K variants do not predispose to liver injury in cholestatic liver diseases: A prospective analysis of 178 patients with PSC.PMID 30161167Read ↗

PNPLA3 and TM6SF2 genetic variants and hepatic fibrosis and cirrhosis in Pakistani chronic hepatitis C patients: a genetic association study.Semantic proximity Read ↗

Effect of PNPLA3 rs738409 variant (I148 M) on hepatic steatosis, necroinflammation, and fibrosis in Japanese patients with chronic hepatitis C.Semantic proximity Read ↗

TM6SF2 E167K variant is associated with severe steatosis in chronic hepatitis C, regardless of PNPLA3 polymorphism.Semantic proximity Read ↗

The rs2294918 E434K variant modulates patatin-like phospholipase domain-containing 3 expression and liver damage.Semantic proximity Read ↗

Polymorphisms Associated With Metabolic Dysfunction-Associated Steatotic Liver Disease Influence the Progression of End-Stage Liver DiseaseSemantic proximity Read ↗

The PNPLA3 rs738409 GG genotype is associated with poorer prognosis in 239 patients with autoimmune hepatitis.Semantic proximity Read ↗

PNPLA3 rs738409 I748M is associated with steatohepatitis in 434 non-obese subjects with hepatitis C.Semantic proximity Read ↗

Common polymorphism in the PNPLA3/adiponutrin gene confers higher risk of cirrhosis and liver damage in alcoholic liver disease.Semantic proximity Read ↗

Patatin-like phospholipase domain-containing 3 I148M polymorphism, steatosis, and liver damage in chronic hepatitis C.Semantic proximity Read ↗

Genetic variation in the PNPLA3 gene is associated with alcoholic liver injury in caucasians.Semantic proximity Read ↗

The PNPLA3 rs738409 148M/M genotype is a risk factor for liver cancer in alcoholic cirrhosis but shows no or weak association in hepatitis C cirrhosis.Semantic proximity Read ↗

Combined Effect of PNPLA3, TM6SF2, and HSD17B13 Variants on Risk of Cirrhosis and Hepatocellular Carcinoma in the General Population.Semantic proximity Read ↗

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