Juvenile idiopathic arthritis (JIA) is one of the most common forms of pediatric chronic
arthritis. JIA is a clinically heterogeneous disease. Therefore, the genetic background of JIA may also be heterogeneous. The aim of this study was to investigate associations between
human leukocyte antigen (HLA) and susceptibility to JIA and/or
uveitis, which is one of the most devastating complications of JIA. A total of 106 Japanese articular JIA patients (67 with
polyarthritis and 39 with
oligoarthritis) and 678 healthy controls were genotyped for
HLA-A, -B and -DRB1 by PCR-sequence-specific
oligonucleotide probe methodology.
HLA-A(*)02:06 was the risk factor for JIA accompanied by
uveitis after adjustment for clinical factors (corrected P-value < 0.001, odds ratio (OR) 11.7, 95% confidence interval (CI) 3.2-43.0). On the other hand,
HLA-DRB1(*)04:05 was associated with polyarticular JIA (corrected P-value < 0.001, OR 2.9, 95% CI 1.7-4.8). We found an association of
HLA-A(*)02:06 with susceptibility to JIA accompanied by
uveitis, which might be considered a separate clinical JIA entity. We also found an association between
HLA-DRB1(*)04:05 and polyarticular JIA. Thus, clinical subtypes of JIA can be classified by the presence of the specific HLA alleles,
HLA-A(*)02:06 and DRB1(*)04:05.