Related Experiment Video
Updated: Aug 11, 2026
Imaging Features of Systemic Sclerosis-Associated Interstitial Lung Disease
Published on: June 16, 2020
Association between the HLA-DRB1 gene and clinical features of systemic sclerosis in Korea
C-I Joung1, J-B Jun, W-T Chung
1Department of Rheumatology, Konyang University Hospital, Daejeon, Korea.
Insights
The HLA-DRB1*15 allele is linked to developing anti-topoisomerase I-positive systemic sclerosis (SSc) in Koreans. The HLA-DRB1*04 allele is associated with subcutaneous calcinosis in SSc patients.
Area of Science:
- Immunogenetics
- Rheumatology
- Human Genetics
Background:
- Systemic sclerosis (SSc) is an autoimmune disease with complex genetic underpinnings.
- Human Leukocyte Antigen (HLA) genes, particularly HLA-DR, are known to influence autoimmune disease susceptibility.
- Understanding the genetic associations in specific ethnic populations like Koreans is crucial for disease etiology.
Purpose of the Study:
- To investigate the association between specific HLA-DR alleles and the development of SSc in the Korean population.
- To explore the correlation of HLA-DR alleles with distinct clinical manifestations of SSc.
Main Methods:
- Genotyping of HLA-DRB1 alleles was performed using the polymerase chain reaction-sequence specific oligonucleotide probe (PCR-SSOP) method.
- Seventy-nine Korean patients diagnosed with SSc according to American College of Rheumatology (ACR) criteria were analyzed.
- One hundred forty-four healthy Korean individuals served as controls.
Main Results:
- The HLA-DRB1*15 allele showed a significant association with anti-topoisomerase I autoantibody (anti-topo I)-positive SSc patients (p(corr) = 0.039).
- The HLA-DRB1*04 allele was significantly associated with the presence of subcutaneous calcinosis in SSc patients (p = 0.048).
- A negative association was observed between the HLA-DRB1*04 allele and overlap syndrome in SSc patients (p = 0.036).
Conclusions:
- The HLA-DRB1*15 allele is a potential genetic marker for the development of anti-topo I-positive SSc in Koreans.
- The HLA-DRB1*04 allele is associated with specific clinical features, including subcutaneous calcinosis and overlap syndrome, in Korean SSc patients.
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.
