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Amino acid residues in five separate HLA genes can explain most of the known associations between the MHC and primary biliary cholangitis

3 Dec 2018

Abstract excerpt

Primary Biliary Cholangitis (PBC) is a chronic autoimmune liver disease characterised by progressive destruction of intrahepatic bile ducts. The strongest genetic association is with HLA-DQA1*04:01, but at least three additional independent HLA haplotypes contribute to susceptibility. We used dense single nucleotide polymorphism (SNP) data in 2861 PBC cases and 8514 controls to impute classical HLA alleles and...

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PMID: 30507971
DOI: 10.1371/journal.pgen.1007833

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