A distinct HLA-DRw8 haplotype characterizes patients with juvenile rheumatoid arthritis

Catherine Van Kerckhove, Hector Melin-Aldana, Maruja S. Elma, Lorie Luyrink, Patricia Donnelly, Janalee Taylor, Walter P. Maksymowych, Daniel J. Lovell, Edmund Choi, David N. Glass*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

19 Scopus citations


We studied the first domain of the HLA-DRB1, HLA-DQA1, and HLA-DQB1 loci of 67 HLA-DRw8-positive Caucasians including 43 with early-onset pauciarticular juvenile rheumatoid arthritis (EOPA-JRA, alternatively known as early-onset pauciarticular juvenile chronic arthritis). Serology, restriction fragment length polymorphism (RFLP), and polymerase chain reaction (PCR) oligotyping revealed that 62, including all the EOPA-JRA patients, carried the HLA-DRB1*0801, DQA1*0401, DQB1*0402 genotype. Approximately onefifth of the controls carried atypical HLA-DRB1, HLA-DQA1, and/or HLA-DQB1 loci on their HLA-DRw8 haplotype confirmed by family studies. DNA sequences of HLA-DRB1, DQA1, and DQB1 alleles in patients and controls were identical to those previously reported. Disease association studies in 113 EOPA-JRA patients and 207 controls unselected for HLA-DRw8 revealed that the HLA-DRB1*0801, DQA1*0401, DQB1*0402 genotype was associated with a higher relative risk (RR) for disease (RR = 12.8, χ2 = 48.8, P < 10-4) than was the serologically defined presence of HLA-DRw8 (RR = 8, χ2 = 39, P < 10-4). Further analysis suggested that the DQ genes on HLA-DRw8 haplotypes are as likely as the DR genes to contribute to the pathogenesis of EOPA-JRA. This study increases to five the number of HLA-DR/DQ haplotypes identified in HLA-DRw8 Caucasians.

Original languageEnglish (US)
Pages (from-to)304-308
Number of pages5
Issue number5
StatePublished - Nov 1990

ASJC Scopus subject areas

  • Immunology
  • Genetics


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