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HLA class II alleles, genotypes, haplotypes, and amino acids in primary biliary cirrhosis: A large-scale study

Lookup NU author(s): Dr Peter Donaldson, Dr Anna Baragiotta, Professor David Jones, Emeritus Professor Oliver James, Professor Margaret Bassendine


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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. Copyright © 2006 by the American Association for the Study of Liver Diseases.

Publication metadata

Author(s): Donaldson PT, Baragiotta A, Heneghan MA, Floreani A, Venturi C, Underhill JA, Jones DEJ, James OFW, Bassendine MF

Publication type: Article

Publication status: Published

Journal: Hepatology

Year: 2006

Volume: 44

Issue: 3

Pages: 667-674

ISSN (print): 0270-9139

ISSN (electronic): 1527-3350

Publisher: John Wiley & Sons, Inc.


DOI: 10.1002/hep.21316

PubMed id: 16941709


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