The NBS1 Genetic Polymorphisms and the Risk of the Systemic Lupus Erythematosus in Taiwanese Patients.

Introduction: 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. Aims: 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. Patients and Methods: 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. [ABSTRACT FROM AUTHOR]