| HLA class II alleles, genotypes, haplotypes, and amino acids in primary biliary cirrhosis: a large-scale study. | |
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MedLine Citation:
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PMID: 16941709 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Peter T Donaldson; Anna Baragiotta; Michael A Heneghan; Annarosa Floreani; Carla Venturi; James A Underhill; David E J Jones; Oliver F W James; Margaret F Bassendine |
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Publication Detail:
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Type: Comparative Study; Journal Article; Multicenter Study |
Journal Detail:
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Title: Hepatology (Baltimore, Md.) Volume: 44 ISSN: 0270-9139 ISO Abbreviation: Hepatology Publication Date: 2006 Sep |
Date Detail:
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Created Date: 2006-09-04 Completed Date: 2006-09-28 Revised Date: 2010-10-15 |
Medline Journal Info:
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Nlm Unique ID: 8302946 Medline TA: Hepatology Country: United States |
Other Details:
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Languages: eng Pagination: 667-74 Citation Subset: IM |
Affiliation:
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School of Clinical Medical Sciences (Hepatology), Faculty of Medical Sciences, University of Newcastle, Newcastle-upon-Tyne, and Institute of Liver Studies, Kings College Hospital, London, UK. p.t.donaldson@ncl.ac.uk |
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| MeSH Terms | |
Descriptor/Qualifier:
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Alleles* Amino Acids / metabolism* DNA / genetics* Disease Progression Female Gene Frequency Genetic Predisposition to Disease Great Britain / epidemiology HLA-DQ Antigens / genetics* HLA-DR Antigens / genetics* Haplotypes Humans Italy / epidemiology Liver Cirrhosis, Biliary / epidemiology, genetics*, metabolism Male Polymerase Chain Reaction Prevalence Prognosis |
| Chemical | |
Reg. No./Substance:
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0/Amino Acids; 0/HLA-DQ Antigens; 0/HLA-DQA1; 0/HLA-DQB1 antigen; 0/HLA-DR Antigens; 128338-86-3/HLA-DRB1 antigen; 9007-49-2/DNA |
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