A frequent PNPLA3 variant is a sex specific disease modifier in PSC patients with bile duct stenosis.

doi:10.1371/journal.pone.0058734

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Article

A frequent PNPLA3 variant is a sex specific disease modifier in PSC patients with bile duct stenosis.

PloS one - 1 Jan 2013

Friedrich Kilian, Rupp Christian, Hov Johannes Roksund, Steinebrunner Niels, Weiss Karl-Heinz, Stiehl Adolf, Brune Maik, Schaefer Petra Kloeters Yvonne, Schemmer Peter, Sauer Peter, Schirmacher Peter, Runz Heiko, Karlsen Tom Hemming, Stremmel Wolfgang, Gotthardt Daniel Nils

Abstract excerpt

BACKGROUND AIMS: Primary sclerosing cholangitis predominantly affects males and is an important indication for liver transplantation. The rs738409 variant (I148M) of the PNPLA3 gene is associated with alcoholic and non-alcoholic liver disease and we evaluated its impact on the disease course of PSC. METHODS: The I148M polymorphism was genotyped in 121 German PSC patients of a long-term prospective cohort and 347...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 23505555
DOI: 10.1371/journal.pone.0058734
PMCID: PMC3591368

Genes

PNPLA3

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Source receipt: pubmed, retrieved 7 Sept 2026.

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A frequent PNPLA3 variant is a sex specific disease modifier in PSC patients with bile duct stenosis.PMID 23505555Read ↗

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.Semantic proximity Read ↗

The rs738409 (I148M) variant of the PNPLA3 gene and cirrhosis: a meta-analysis.Semantic proximity Read ↗

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

A common variant of PNPLA3 (p.I148M) is not associated with alcoholic chronic pancreatitis.Semantic proximity Read ↗

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