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HLA class II alleles, genotypes, haplotypes, and amino acids in primary biliary cirrhosis: A large‐scale study
Author(s) -
Donaldson Peter T.,
Baragiotta Anna,
Heneghan Michael A.,
Floreani Annarosa,
Venturi Carla,
Underhill James A.,
Jones David E.J.,
James Oliver F.W.,
Bassendine Margaret F.
Publication year - 2006
Publication title -
hepatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 5.488
H-Index - 361
eISSN - 1527-3350
pISSN - 0270-9139
DOI - 10.1002/hep.21316
Subject(s) - primary biliary cirrhosis , allele , haplotype , human leukocyte antigen , genotype , population , medicine , gastroenterology , immunology , genetics , biology , antigen , gene , environmental health
Twin and family studies suggest there is a significant genetic component to primary biliary cirrhosis (PBC). However, the inability to replicate reported associations has been a recurring problem, with the only consistently reported genetic association that between PBC and HLA‐ DRB1*0801 . However, recently even this has been questioned, and a number of novel associations have also been reported. We reinvestigated HLA class II DRB1, DQA1, and DQB1 alleles and haplotypes in a total of 492 well‐characterized PBC patients, 412 from the United Kingdom and an additional 80 patients from northern Italy. There was a clear and significant association with HLA ‐DRB1*0801 in both groups of patients compared to population‐specific healthy controls (12% versus 4% in the UK patients, P = .00087, OR = 3.05; and 18% versus 6% in the Italian patients, P = .021, OR = 3.15). There were also significant protective associations with DRB1*11 in the Italian patients (28% versus 47%, P = .0071, OR = 0.42), but not in the UK patients (8% versus 8%) and a protective association with DRB1*13 in both series (14% versus 20%, P = .042, OR = 0.65 in the UK patients; and 10% versus 31%, P = .00092, OR = 0.25 in the Italian patients). In conclusion , a complex relationship exists between HLA and PBC, and some genetic associations may be population specific. (H EPATOLOGY 2006;44:667–674.)