Association of HLA-A*02:06 and HLA-DRB1*04:05 with clinical subtypes of juvenile idiopathic arthritis

Abstract

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 andor 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. © 2011 The Japan Society of Human Genetics. All rights reserved.