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The role of HLA-DQβ1 alleles in susceptibility to rheumatoid arthritis

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Abstract Aim: 

Rheumatoid arthritis (RA) is the most common chronic inflammatory erosive joint disease with the worldwide distribution of approximately 0.5–1.0%. Etiology of RA is not exactly known but immunologic and genetic factors play an important role in the pathogenesis of the disease. Genetic factors such as human leukocyte antigens (HLA) are responsible for many autoimmune diseases; therefore we decided to look for a correlation between RA and the presence of HLA-DQβ1 alleles as possible genetic markers. Methods: 

Genomic DNA from the whole blood samples of 25 patients with RA and 86 normal individuals as control group were extracted by salting out method. The genomic DNA was amplified by polymerase chain reaction-sequence specific primer (PCR-SSP) technique. HLA-typing was done by this method after optimizing the PCR reaction for each allele. In this procedure seven serological subclasses of HLA-DQβ1 can be detected. Results: 

Comparing the results between the patients and controls show a significant increase in the frequency of HLA-DQ8 (*0302, *0305) alleles in RA patients. The P-values were 0.007 and the relative risk for these alleles was evaluated higher than 1. Conclusions: 

The results suggest that DQ8 is the dominant HLA-DQβ1 allele that is associated with susceptibility to RA in north-eastern Iran.
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Keywords: HLA DQβ1; PCR-SSP; rheumatoid arthritis; susceptibility

Document Type: Research Article

Affiliations: 1: Immunology Research group, Department of Immunogenetics and Tissue Culture, Bu-Ali Research Institute and 2: Department of Internal Medicine, Division of Rheumatology, Ghaem Hospital, Mashhad University of Medical Sciences (MUMS), Mashhad, Iran; 3: Department of Genetics Faculty of Basic Science, Tarbiat Modares University (TMU), Tehran, Iran

Publication date: 2007-09-01

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