A Genetic Risk Variant Associated With the Risk of Primary Biliary Cholangitis Is Inherited From Neanderthals.

doi:10.1111/liv.70868

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Article

A Genetic Risk Variant Associated With the Risk of Primary Biliary Cholangitis Is Inherited From Neanderthals.

Liver international : official journal of the International Association for the Study of the Liver - 1 Oct 2026

Gerussi Alessio, Caime Chiara, Wang Harold, Cordell Heather J, Mells George F, Sandford Richard N, Jones David E, Hirschfield Gideon, Siminovitch Katherine A, Gershwin M Eric, Juran Brian D, Atkinson Elizabeth J, Cheung Angela, Andrade Mariza de, Baras Aris, Lazaridis Konstantinos N, Asselta Rosanna, Invernizzi Pietro, Sironi Manuela, Sankararaman Sriram

Abstract excerpt

BACKGROUND: Primary Biliary Cholangitis (PBC) is an autoimmune cholangiopathy with polygenic architecture and unknown aetiology. Evidence links Neanderthal-derived genetic variants to autoimmune conditions; however, their contribution to PBC susceptibility remains unexplored. OBJECTIVE: We investigate whether archaic alleles influence PBC risk. DESIGN: Genotype data from four PBC cohorts were analysed: CANUK...

Read the complete abstract on PubMed

Topics

Female
Humans
Male
Case-Control Studies

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Europe

European People

Genetic Predisposition to Disease

Haplotypes

Interferon Regulatory Factors

Liver Cirrhosis, Biliary

Neanderthals

Polymorphism, Single Nucleotide

Asian People

Source

Open in PubMed Open full text

Identifiers

PMID: 42773620
DOI: 10.1111/liv.70868
PMCID: PMC13598353

Genes

TNPO3

Provenance

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