Disease association study of the inflammatory cytokine and DNA repair gene polymorphisms in Taiwanese systemic lupus erythematosus patients

[[abstract]]Systemic lupus erythematosus (SLE) is an autoimmune diease. The symptoms varies from slight red rash to the deadly centre neuropathy. Detail molecular mechanism of SLE pathogenesis is still not clear. In this study, we investigated the role of inflammatory regulation cytokine gene IL-10, TNFα and DNA repair gene XRCC1, XPC, XPD, XRCC3, NBS1 in SLE. PCR-RFLP and HRM methods weve applied to identified the SNPs. A total of 172 patients with SLE meet the American Rheumatism Association criteria was the the study group, and 220 healthy subjects comprise the Taiwan Chinese cohort was the control gruop. Our results showed that, inflammatory cytokine IL-10 -592 CC genotype and C allele were significantly decreased in SLE patients, TNFα 489 AA, GA genotype and A allele in SLE patients were significantly increased. Furthermore, DNA repair gene XRCC3 241 T allele distribution were higher in SLE patients, NBS1 185 CC genotype and C allele were significantly decreased in SLE patients, NBS1 399 AA、GA genotype and A allele were significantly increase. These observations suggest that IL-10 -592 C allele might decreased the risk of SLE. TNFα 489 A allele contribute to the genetic background of SLE pathogenesis. Furthermore, observations of three SNP (XRCC3 241、NBS1 185、NBS1 399) with double strand DNA break repair homologous recombination pathway showed that functional influence might be possibl