부산대학교 도서관

The human interleukin 6 receptor consists of two membrane-bound glycoproteins ( IL-6 Rα, IL-6RA and gp130/ IL-6 Rβ, IL-6RB) interacting with IL-6, which is a multifunctional cytokine essential to the regulation of the immune response and acute-phase reactions. We have genotyped a single-nucleotide polymorphism ( SNP) of the IL-6 RA in Korean patients with systemic lupus erythematosus ( SLE) ( n = 300) and normal controls ( NC, n = 299). Three SNPs were identified in the IL-6 RA gene; -208 G≥A ( NM_000565.3:c.-208G≥A, rs4845617) in the promoter region, 48841 T≥A ( NM_000565.3:c.1067-17T≥A, rs4845374) in the intron 8 region and 48864 A≥C ( NM_000565.3:c.1073A≥C, rs2228145) in the exon 9 region. There were no differences between the SLE and the NC in the genotype and haplotype frequencies. The 48864 A>C polymorphism was significantly associated with rash ( P = 0.008). Also, the frequency of rash ( P = 0.037), leucopenia ( P = 0.033) and lymphopenia ( P = 0.027) was significantly higher in patients with SLE having the haplotype HT2 [ ATC]. These data suggest that genetic polymorphisms of IL-6 RA gene may be associated with disease phenotypes of SLE in Korean. [ABSTRACT FROM AUTHOR]