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

Abstract

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 (p_corr) = 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, p_corr = 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.