Evidence map›Paper›PMID 42773620›Full record

ArticleLiver international : official journal of the International Association for the Study of the Liver2026

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

Alessio Gerussi, Chiara Caime, Harold Wang, Heather J Cordell, George F Mells, Richard N Sandford, David E Jones, Gideon Hirschfield, Katherine A Siminovitch, M Eric Gershwin and 13 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Liver international : official journal of the International Association for the Study of the Liver, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. 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 · 2026
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

23 authors.

Alessio GerussiDepartment of Medicine and Surgery, University of Milano-Bicocca, Monza, Italy.ORCID https://orcid.org/0000-0002-5086-0514
Chiara CaimeDepartment of Medicine and Surgery, University of Milano-Bicocca, Monza, Italy.ORCID https://orcid.org/0009-0007-2330-3230
Harold WangDepartment of Computer Science, University of California, Los Angeles, California, USA.
Heather J CordellPopulation Health Sciences Institute, Faculty of Medical Sciences, Newcastle University, UK.ORCID https://orcid.org/0000-0002-1879-5572
George F MellsPopulation Health Sciences Institute, Faculty of Medical Sciences, Newcastle University, UK.
Richard N SandfordAcademic Department of Medical Genetics, Cambridge University, Cambridge, UK.
David E JonesFaculty of Medical Sciences, Newcastle University, Newcastle, UK.ORCID https://orcid.org/0000-0002-0083-5564
Gideon HirschfieldThe Autoimmune and Rare Liver Disease Programme, Division of Gastroenterology and Hepatology, Toronto General Hospital, Toronto, Ontario, Canada.
Katherine A SiminovitchDepartment of Medicine, University of Toronto, Toronto, Ontario, Canada.
M Eric GershwinUniversity of California - Davis, Davis, California, USA.ORCID https://orcid.org/0000-0001-5245-2680
Brian D JuranDivision of Gastroenterology and Hepatology, Mayo Clinic, Rochester, Minnesota, USA.
Elizabeth J AtkinsonDivision of Biomedical Statistics and Informatics, Mayo Clinic, Rochester, Minnesota, USA.ORCID https://orcid.org/0000-0002-1191-3775
Angela CheungDivision of Gastroenterology and Hepatology, Mayo Clinic, Rochester, Minnesota, USA.
Mariza de AndradeDivision of Biomedical Statistics and Informatics, Mayo Clinic, Rochester, Minnesota, USA.
Aris BarasRegeneron Genetics Center, Tarrytown, New York, USA.
Konstantinos N LazaridisDivision of Gastroenterology and Hepatology, Mayo Clinic, Rochester, Minnesota, USA.ORCID https://orcid.org/0000-0002-0437-681X
Rosanna AsseltaDepartment of Biomedical Sciences, Humanitas University, Milan, Italy.ORCID https://orcid.org/0000-0001-5351-0619
Pietro InvernizziDepartment of Medicine and Surgery, University of Milano-Bicocca, Monza, Italy.ORCID https://orcid.org/0000-0003-3262-1998
Manuela SironiDepartment of Medicine and Surgery, University of Milano-Bicocca, Monza, Italy.ORCID https://orcid.org/0000-0002-2267-5266
Sriram SankararamanDepartment of Computer Science, University of California, Los Angeles, California, USA.ORCID https://orcid.org/0000-0003-1586-9641
Canadian‐US PBC Consortium
UK‐PBC Consortium
Italian PBC Genetics Study Group

Funding

Pathogenesis of Primary Biliary CholangitisR01DK126691 · NIDDK · MAYO CLINIC ROCHESTER · PI LAZARIDIS, KONSTANTINOS N · 2021 to 2024
$2.6M
Bando Giovani "Early Career Award" FRRB - CUP H53C24000630002 "AIVAR - Artificial Intelligence-Enhanced Diagnosis of PBC-AIH Variant Syndrome.Italian MUR PNRR PE06 "HEAL ITALIA - Health Extended Alliance for Innovative Therapies, Advanced Lab-research and Integrated Approaches of Precision Medicine" - Spoke 4 - Precision Diagnostics, Italian MUR PRIN 2022 PNRR P2022H7JYZ "Non-invasive biological and molecular characterization of autoimmune liver diseases and variant syndromes"NIDDK NIH HHS R01 DK126691NIH R01 DK126691 (KNL).
6 · The paper itself

Abstract

backgroundPrimary 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.

objectiveWe investigate whether archaic alleles influence PBC risk.

designGenotype data from four PBC cohorts were analysed: CANUK (4615 cases, 9233 controls), OLD IT (444 cases, 901 controls), NEW IT (255 cases, 579 controls) and MAYO (891 cases, 621 controls). Association testing with 235 592 Neanderthal Informative Markers (NIMs) was performed, adjusting for population stratification. Heritability was estimated using RHE-mc and temporal haplotype dynamics were assessed using ancient DNA data from Europe and Asia.

resultsA Neanderthal-derived variant in TNPO3 (rs12531711), previously reported by Cordell et al. showed strong association in CANUK (p = 2.04 × 10

conclusionA Neanderthal-derived variant contributes to PBC risk and its frequency increased in the Bronze Age, possibly due to pathogen-driven selection. Archaic introgression overall has limited influence on PBC heritability. Functional studies are needed to elucidate the role of rs12531711.

Indexed as

Genetic Predisposition to DiseaseLiver Cirrhosis, BiliaryNeanderthalsAsian PeopleCase-Control StudiesEuropeEuropean PeopleFemaleHaplotypesHumansInterferon Regulatory FactorsMalePolymorphism, Single NucleotideInterferon Regulatory Factors

Identifiers

PMID42773620
PMCPMC13598353

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.