PNPLA3 fatty liver allele was fixed in Neanderthals and segregates neutrally in humans.

doi:10.1136/gutjnl-2023-331594

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Article

PNPLA3 fatty liver allele was fixed in Neanderthals and segregates neutrally in humans.

Gut - 10 May 2024

Geier Andreas, Trost Jonas, Wang Ke, Schmid Clemens, Krawczyk Marcin, Schiffels Stephan

Abstract excerpt

OBJECTIVE: Fat deposition is modulated by environmental factors and genetic predisposition. Genome-wide association studies identified PNPLA3 p.I148M (rs738409) as a common variant that increases risk of developing liver steatosis. When and how this variant evolved in humans has not been studied to date. DESIGN: Here we analyse ancient DNA to track the history of this allele throughout human history. In total,...

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PMID: 38458749
DOI: 10.1136/gutjnl-2023-331594

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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