Association between the HLA-DRB1 gene and clinical features of systemic sclerosis in Korea

• Published in: Scandinavian journal of rheumatology 2006-01, Vol.35 (1), p.39-43
• Main Authors: Joung, C.-I., Jun, J.-B., Chung, W.-T., Song, G.-G., Choe, J.-Y., Chang, H.-K., Yoo, D.-H.
• Format: Article
• Language: English
• Subjects: Biological and medical sciences; Female; HLA-DR Antigens - genetics; HLA-DRB1 Chains; Humans; Korea; Male; Medical sciences; Oligonucleotide Probes; Polymerase Chain Reaction; Reference Values; Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis; Scleroderma, Systemic - classification; Scleroderma, Systemic - genetics; Scleroderma, Systemic - immunology
• ISSN: 0300-9742; 1502-7732
• DOI: 10.1080/03009740510026751

Objective: To determine whether HLA-DR alleles are associated with the development and clinical features of systemic sclerosis (SSc) in Koreans. Methods: Seventy-nine patients (74 women and five men; 45 diffuse types and 34 limited types; mean age at diagnosis 43.9 years) fulfilling the American College of Rheumatology (ACR) classification criteria for SSc were enrolled. The controls were 144 healthy, disease-free Koreans. HLA-DRB1 genotypes were assessed by the polymerase chain reaction-sequence specific oligonucleotide probe (PCR-SSOP) method. Results: The HLA-DRB1*15 allele was increased in anti-topoisomerase I autoantibody (anti-topo I)-positive SSc patients [p = 0.003, p corrected (pcorr) = 0.039, odds ratio (OR) = 3.43, 95% confidence interval (CI) 1.45-8.13] compared with controls. The DRB1*11 allele was also observed more frequently in anti-topo I-positive SSc than in controls (13.3% vs. 4.2%) but not statistically significant (p = 0.053, pcorr = 0.689). In patients with SSc, the DRB1*04 allele was associated with subcutaneous calcinosis (p = 0.048, OR = 4.56, 95% CI 1.07-19.37). Patients with overlap syndrome showed a negative association with the DRB1*04 allele (p = 0.036, OR = 0.26, 95% CI 0.08-0.91). Conclusion: The HLA-DRB1*15 allele was associated with the development of anti-topo I-positive SSc in Koreans. In addition, the DRB1*04 allele was associated with certain clinical features in SSc patients.