Study of DMA and DMB as susceptibility genes of SLE, PSS and RA

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In this study, the possibilities were examined that DM genes worked as susceptibility genes of RA, PSS and SLE, and the relationships between DM and clinical features were examined. In normal control (n=77), DMA*0101-0103 and DMB*0101-0103 alleles were observed. A strong positive association was shown between DMA*0102 and DMB*00101. In Japanese, frequencies of DMA*0102 and DMB*0101 were decreased, and those of DMB*0102 and *0103 were increased comparing to Caucasians. The differences in distribution were obvious. In RA (n=91), a frequency of DMB*0101 (52.5%) was sligtly increased. An weak association was observed between DRB1*0405, which was known to be increased in RA, and DMB*0101 ( χィイD12ィエD1=3.02). This inducated that an increase in DMB*0101 in RA was secondary to an increase in DRB1*0405. As disease susceptibility haplotypes, DRBl*0405-[TAP2B-DMA*0102-DMB*0101] would work positively and DRB1*0802-DMB*0103 would work protectively. Examinations of relations to clinical features reve … More aled that a frequency of r-SS Aantibody was higher in DMB*0102 group. (27.3%) and a frequency of an antibody to Ezrin 80KD antigen (61.5% was higher in DMA*0102 group. Moreover, the positivity of proteinuria was higher in DMA*0102 group (44%). No association was observed between the rheumatoid factor and DM. In whole PSS group, a frequency of DMB*0103 was 20.0% and that was decreased comparing to control. The frequencies of DMB*0101 were 70.0% in diffuse scleroderma (DS) and 68.2% in the anti-Scl-70 positive group (Scl), and these frequencies were significantly higher. The significant association was observed between DMB*0101 and DRB1*1502, that was known to be increased in DS and Scl. These observation indicated that the increase in DMB*0101 would be secondary to the increase in DRB1*1502. As a disease susuceptibility haplotype. C4BQ0-DRB1*1502-DMB*0101 was proposed in DS and Scl. A significant negative association was observed between DMB*0103 and lung fibrosis in PSS. Examinations of TNF and HSP-70 showed no significant association to lung fibrosis. In SLE (n=51) no significant difference was observed in frequencies of DMA and DMB alleles comparing to those in control. A frequency of DMB*0101 was increased in the anti-DNA antibody positive group (p=0.045) and the frequency was also slightly higher in SS-A group. In this study, no nobel DM allele was observed. Less