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Article

Function of PNPLA3 I148M-Lessons From In Vivo Studies in Humans.

Liver international : official journal of the International Association for the Study of the Liver - 1 Apr 2025

Yki-Järvinen Hannele, Luukkonen Panu K

Abstract excerpt

BACKGROUND AND AIMS: Steatotic liver disease (SLD) associated with insulin resistance (IR) and the metabolic syndrome ('IR-SLD') increases the risk of liver disease, type 2 diabetes and cardiovascular disease (CVD). SLD associated with the PNPLA3 I148M variant ('PNPLA3-SLD') also predisposes individuals to liver disease but protects against type 2 diabetes and CVD. Although in real life the two causes of SLD...

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Identifiers

PMID: 40052746
DOI: 10.1111/liv.70047

Genes

PNPLA3

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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Global epidemiology and implications of PNPLA3 I148M variant in MASLD: a systematic review and meta-analysisSemantic proximity Read ↗

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Human genetics of metabolic dysfunction–associated steatotic liver disease: from variants to cause to precision treatmentSemantic proximity Read ↗

The PNPLA3-I148M variant increases polyunsaturated triglycerides in human adipose tissue.Semantic proximity Read ↗

I148M variant in PNPLA3 reduces central adiposity and metabolic disease risks while increasing nonalcoholic fatty liver disease.Semantic proximity Read ↗

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The fatty liver disease-causing protein PNPLA3-I148M alters lipid droplet-Golgi dynamicsSemantic proximity Read ↗

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