Asano T, et al. - The researchers analyzed the DRB1 allele distributions in order to evaluate whether DRB1 alleles were associated with susceptibility to particular clinical features of adult onset Still’s disease (AOSD) in a Japanese population. Their investigations revealed that The both DRB1*15:01 and DR5 were associated with AOSD susceptibility in Japanese subjects. They also reported a protective association between the DRB1*09:01 allele and AOSD. Moreover, these findings also highlighted the effects of DRB1 alleles in susceptibility to AOSD.

Methods

• In this study, the clinicians performed the DRB1 genotyping of 96 patients with AOSD and 1,026 healthy control.
• With direct sequencing, genomic DNA samples from the AOSD patients were also genotyped for MEFV exons 1, 2, 3, and 10.

Results

• In Japanese patients with AOSD, they reported a predisposing association of DRB1*15:01 (p = 8.60 × 10^-6, corrected p (Pc) = 0.0002, odds ratio (OR) = 3.04, 95% confidence interval (95% CI) = 1.91–4.84) and DR5 serological group (p = 0.0006, OR= 2.39, 95% CI = 1.49–3.83) and a protective association of DRB1*09:01 (p = 0.0004, Pc = 0.0110, OR = 0.34, 95% CI = 0.18–0.66) with AOSD, and amino acid residues 86 and 98 of the DR β chain were protectively associated with AOSD.
• In 49 patients with AOSD (56.3%), MEFV variants were identified.
• The predisposing effect of DR5 was confirmed only in patients with AOSD who had MEFV variants and not in those without MEFV variants.
• Moreover, DR5 in patients with AOSD were associated with macrophage activation syndrome (MAS) and steroid pulse therapy.