Influence of HLA-DRB1 genes and the shared epitope on genetic susceptibility to rheumatoid arthritis in Taiwanese

OBJECTIVE:To investigate the association of predisposing and protective HLA-DRB1 alleles with rheumatoid arthritis (RA) and its clinical markers in a Taiwanese population. METHODS: A total of 273 patients with RA and 480 healthy controls, all of Taiwanese origin, were genotyped for HLA-DRB1 alleles...

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Published in:Journal of rheumatology 2007-04, Vol.34 (4), p.674-680
Main Authors: LIU, Shih-Chia, CHANG, Tzu-Yang, CHEN, Tien-Ling, HUANG, Chun-Hsiung, LEE, Yann-Jinn, CHU, Chen-Chung, LIN, Marie, CHEN, Zong-Xian, LIU, Hsin-Fu, DANG, Ching-Wen, CHANG, Shih-Chuan, LEE, Chyou-Shen
Format: Article
Language:English
Subjects:
Adult
Aged
Arthritis, Rheumatoid - epidemiology
Arthritis, Rheumatoid - ethnology
Arthritis, Rheumatoid - genetics
Arthritis, Rheumatoid - immunology
Base Sequence
Biological and medical sciences
Case-Control Studies
Diseases of the osteoarticular system
Female
Genetic Predisposition to Disease - epidemiology
Genotype
HLA-DR Antigens - genetics
HLA-DR Antigens - immunology
HLA-DRB1 Chains
Humans
Inflammatory joint diseases
Male
Medical sciences
Middle Aged
Odds Ratio
Phenotype
Taiwan - epidemiology
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Summary:OBJECTIVE:To investigate the association of predisposing and protective HLA-DRB1 alleles with rheumatoid arthritis (RA) and its clinical markers in a Taiwanese population. METHODS: A total of 273 patients with RA and 480 healthy controls, all of Taiwanese origin, were genotyped for HLA-DRB1 alleles by polymerase chain reaction and sequence-based typing assays. The associations between RA and HLA-DRB1 alleles and genotypes were investigated by chi-squared test. RESULTS: The DRB1*0405 and *1001 phenotypes showed the most significant associations with RA (OR 4.04, 95% CI 2.84-5.77, pc = 3.2 10(-14); OR 5.25, 95% CI 2.10-13.06, pc = 3.0 10(-3), respectively). Individuals carrying single or double doses of the shared epitope (SE/non-SE or SE/SE) had higher risks of RA. The compound heterozygote of DRB1*0405/*1001 showed the largest increase in RA risk (OR 15.8, 95% CI 2.48-100.7, pc = 0.004). Single or double doses of SE alleles were significantly associated with a higher bone erosion rate. Rheumatoid factor positivity and bone erosion were more frequent in patients with at least one copy of DRB1*0405. CONCLUSION: Our results show that SE-encoding HLA-DRB1*0405 and *1001 are associated with RA in a Taiwanese population; this is the first time DRB1*1001 has been described in persons of Asian ethnicity. Heterozygotes of DRB1*0405 and *1001 predicted the strongest susceptibility to RA, suggesting that this genotype enhances susceptibility to RA in Taiwanese.
ISSN:0315-162X
1499-2752