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Article

Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.

Nature genetics - 1 Oct 2012

Liu Jimmy Z, Almarri Mohamed A, Gaffney Daniel J, Mells George F, Jostins Luke, Cordell Heather J, Ducker Samantha J, Day Darren B, Heneghan Michael A, Neuberger James M, Donaldson Peter T, Bathgate Andrew J, Burroughs Andrew, Davies Mervyn H, Jones David E, Alexander Graeme J, Barrett Jeffrey C, Sandford Richard N, Anderson Carl A

Abstract excerpt

We genotyped 2,861 cases of primary biliary cirrhosis (PBC) from the UK PBC Consortium and 8,514 UK population controls across 196,524 variants within 186 known autoimmune risk loci. We identified 3 loci newly associated with PBC (at P<5×10(-8)), increasing the number of known susceptibility loci to 25. The most associated variant at 19p12 is a low-frequency nonsynonymous SNP in TYK2, further implicating JAK-STAT...

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Topics

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Share to Adaptor Proteins, Signal Transducing
Share to Chromosomes, Human, Pair 19

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Loci

Share to HLA Antigens

Share to Intracellular Signaling Peptides and Proteins

Share to Liver Cirrhosis, Biliary

Share to Regression Analysis

Share to TYK2 Kinase

Source

Open in PubMed Open full text

Identifiers

PMID: 22961000
DOI: 10.1038/ng.2395
PMCID: PMC3459817

Genes

TYK2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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