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Article

Paradoxical dissociation between hepatic fat content and de novo lipogenesis due to PNPLA3 sequence variant.

The Journal of clinical endocrinology and metabolism - 1 May 2015

Mancina Rosellina M, Matikainen Niina, Maglio Cristina, Söderlund Sanni, Lundbom Nina, Hakkarainen Antti, Rametta Raffaela, Mozzi Enrico, Fargion Silvia, Valenti Luca, Romeo Stefano, Taskinen Marja-Riitta, Borén Jan

Abstract excerpt

CONTEXT: Nonalcoholic fatty liver disease (NAFLD) is an emerging epidemic disease characterized by increased hepatic fat, due to an imbalance between synthesis and removal of hepatic lipids. In particular, increased hepatic de novo lipogenesis (DNL) is a key feature associated with NAFLD. The genetic variations I148M in PNPLA3 and E167K in TM6SF2 confer susceptibility to NAFLD. OBJECTIVE: Here we aimed to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25763607
DOI: 10.1210/jc.2014-4464

Genes

PNPLA3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

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Paradoxical dissociation between hepatic fat content and de novo lipogenesis due to PNPLA3 sequence variant.PMID 25763607Read ↗

Could inherited predisposition drive non-obese fatty liver disease? Results from German tertiary referral centers.Semantic proximity Read ↗

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NAFLD risk alleles in PNPLA3, TM6SF2, GCKR and LYPLAL1 show divergent metabolic effects.Semantic proximity Read ↗

Metabolic effects of risk alleles in <i>PNPLA3, TM6SF2, GCKR</i> and <i>LYPLAL1</i> inform about heterogeneity of non-alcoholic fatty liver diseaseSemantic proximity Read ↗

Reduction of Caloric Intake Might Override the Prosteatotic Effects of the PNPLA3 p.I148M and TM6SF2 p.E167K Variants in Patients with Fatty Liver: Ultrasound-Based Prospective Study.Semantic proximity Read ↗

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

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

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