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Article

Identification of combined genetic determinants of liver stiffness within the SREBP1c-PNPLA3 pathway.

International journal of molecular sciences - 22 Oct 2013

Krawczyk Marcin, Grünhage Frank, Lammert Frank

Abstract excerpt

The common PNPLA3 (adiponutrin) variant, p.I148M, was identified as a genetic determinant of liver fibrosis. Since the expression of PNPLA3 is induced by sterol regulatory element binding protein 1c (SREBP1c), we investigate two common SREBP1c variants (rs2297508 and rs11868035) for their association with liver stiffness. In 899 individuals (aged 17-83 years, 547 males) with chronic liver diseases, hepatic...

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Identifiers

PMID: 24152445
DOI: 10.3390/ijms141021153
PMCID: PMC3821663

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.

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Identification of combined genetic determinants of liver stiffness within the SREBP1c-PNPLA3 pathway.PMID 24152445Read ↗

Variant adiponutrin (PNPLA3) represents a common fibrosis risk gene: non-invasive elastography-based study in chronic liver disease.Semantic proximity Read ↗

Genetic variant c.711A>T in the hepatobiliary phospholipid transporter ABCB4 is associated with significant liver fibrosis.Semantic proximity Read ↗

Genetic susceptibility versus fibrosis progression in North Indian MASLD: distinct roles of APOC3 and PNPLA3 in a candidate gene studySemantic proximity Read ↗

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The common PNPLA3 variant p.I148M is associated with liver fat contents as quantified by controlled attenuation parameter (CAP).Semantic proximity Read ↗

Genome-wide association study of non-alcoholic fatty liver and steatohepatitis in a histologically characterised cohort☆.Semantic proximity Read ↗

The impact of genetic risk on liver fibrosis in non‐alcoholic fatty liver disease as assessed by magnetic resonance elastographySemantic proximity Read ↗

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 ↗

PNPLA3 is the dominant SNP linked to liver disease severity at time of first referral to a tertiary center.Semantic proximity Read ↗

Homozygosity for the patatin-like phospholipase-3/adiponutrin I148M polymorphism influences liver fibrosis in patients with nonalcoholic fatty liver disease.Semantic proximity Read ↗

Linked Intronic Polymorphisms of the PNPLA3 Gene Are Associated with Serum Markers of Liver Injury in Patients with Spontaneous HCV Clearance.Semantic proximity Read ↗

A common variant in PNPLA3, which encodes adiponutrin, is associated with liver fat content in humans.Semantic proximity Read ↗

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