Department of Medical Research, China Medical University Hospital, No.2 Yuh-Der Road, Taichung 404, Taiwan.
J Clin Immunol. 2010 Sep;30(5):643-8. doi: 10.1007/s10875-010-9427-0. Epub 2010 Jun 23.
Systemic lupus erythematosus (SLE), a multisystemic autoimmune disease, is characterized by the production of a range of autoantibodies against nuclear constituents and other self-antigens. The studies in DNA repair deficiencies in SLE patients have been recently investigated.
Few studies have been conducted on DNA repair gene polymorphisms and their role in autoimmune diseases. Our study purpose was to examine and compare NBS1 genotype distributions in a group of Taiwanese SLE patients and controls in Taiwan.
Participants were Taiwanese SLE patients and healthy controls. We studied associations among NBS1 polymorphisms--rs1061302, rs709816, and rs1805794--considering clinical features for the entire group and stratified subgroups. No statistically significant differences between the patients and controls were noted. However, we observed significant decreases in Ht1-GGG, Ht2-AAC, and Ht3-AGC in the SLE patients (Ht1-GGG, OR = 0.26, 95% CI: 0.16-0.41; Ht2-AAC, OR = 0.30, 95% CI: 0.17-0.53; Ht3-AGC, OR = 0.35, 95% CI: 0.19-0.71) and significant increases in Ht4-AAG, Ht5-AGG, and Ht8-GGC among the SLE patients. Combined, these results suggest an association between NBS1 genetic polymorphisms and Taiwanese SLE patients.
系统性红斑狼疮(SLE)是一种多系统自身免疫性疾病,其特征是产生针对核成分和其他自身抗原的一系列自身抗体。最近已经研究了 SLE 患者中 DNA 修复缺陷的情况。
关于 DNA 修复基因多态性及其在自身免疫性疾病中的作用的研究较少。我们的研究目的是检查和比较台湾一组 SLE 患者和对照组中 NBS1 基因型的分布。
参与者为台湾的 SLE 患者和健康对照者。我们研究了 NBS1 多态性(rs1061302、rs709816 和 rs1805794)与整个组和分层亚组的临床特征之间的关联。患者和对照组之间没有观察到统计学上的显著差异。然而,我们观察到 SLE 患者中的 Ht1-GGG、Ht2-AAC 和 Ht3-AGC 显著减少(Ht1-GGG,OR=0.26,95%CI:0.16-0.41;Ht2-AAC,OR=0.30,95%CI:0.17-0.53;Ht3-AGC,OR=0.35,95%CI:0.19-0.71),而 SLE 患者中的 Ht4-AAG、Ht5-AGG 和 Ht8-GGC 显著增加。这些结果表明 NBS1 遗传多态性与台湾的 SLE 患者有关。