To determine whether genetic markers for chronic iridocyclitis could be identified, we used both serologic and oligonucleotide dot blot techniques to characterize immunogenetically 164 children with early-onset pauclarticular juvenile rheumatoid arthritis. Seventy-eight children (47.6%) had chronic iridocyclitis and 86 (52.4%) had not had evidence of eye disease during a mean follow-up period after the onset of arthritis of 15.8 years (minimum of 5.5 years). Control subjects were 218 healthy, unrelated individuals. The analysis was limited to alleles known to be associated with an increased or decreased risk of early-onset pauciarticular juvenile rheumatoid arthritis or of chronic iridocyclitis in this form of juvenile rheumatoid arthritis. Only one split of human leukocyte antigen (HLA)-DR5, HLA-DRB1*1104, showed a statistically significant association with a risk of chronic iridocyclitis (chi-square value=7.52; p=0.036 adjusted; odds ratio 3.45); HLA-DQA1*0501 and HLA-DQB1*0301, both in linkage disequilibrium with HLA-DRB1*1104, also were significantly associated with eye disease. Patients with both the DRB1*1104 and DPB1*0201 genes had a 7.7-fold increased risk for chronic iridocyclitis compared with that for other patients. The presence of HLA-DRB1*1104 was about four times as specific, but only about one third as sensitive, as antinuclear antibodies in identifying patients at risk for eye disease. Although all children with early-onset pauciarticular juvenile rheumatoid arthritis should undergo periodic slit-lamp examinations, those with the HLA class II gene DRB1*1104 are at particularly high risk for eye disease, and we recommend that they be monitored carefully for its evolution.
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health