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


CONCLUSIONS
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.
Joung
C-I
CI
Department of Rheumatology, Konyang University Hospital, Daejeon, Korea.
Jun
J-B
JB
Chung
W-T
WT
Song
G-G
GG
Choe
J-Y
JY
Chang
H-K
HK
Yoo
D-H
DH
D005260:Female; D006684:HLA-DR Antigens / Q000235:genetics*; D059811:HLA-DRB1 Chains; D006801:Humans; D007723:Korea; D008297:Male; D015345:Oligonucleotide Probes; D016133:Polymerase Chain Reaction; D012016:Reference Values; D012595:Scleroderma, Systemic / Q000145:classification / Q000235:genetics* / Q000276:immunology*
D006684:HLA-DR Antigens; D059811:HLA-DRB1 Chains; D015345:Oligonucleotide Probes