title: The NBS1 genetic polymorphisms and the risk of the systemic lupus erythematosus in Taiwanese patients.
abstract: BACKGROUND
  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.
  
  
  OBJECTIVE
  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.
  
  
  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.
authors.affiliation: Department of Medical Research, China Medical University Hospital, No.2 Yuh-Der Road, Taichung 404, Taiwan.
authors.forename: Ying-Ju
authors.initials: YJ
authors.lastname: Lin
authors.forename: Yu-Ching
authors.initials: YC
authors.lastname: Lan
authors.forename: Lei
authors.initials: L
authors.lastname: Wan
authors.forename: Chung-Ming
authors.initials: CM
authors.lastname: Huang
authors.forename: Cheng-Wen
authors.initials: CW
authors.lastname: Lin
authors.forename: Kai-Chung
authors.initials: KC
authors.lastname: Hsueh
authors.forename: Da-Yuan
authors.initials: DY
authors.lastname: Chen
authors.forename: Ting-Hsu
authors.initials: TH
authors.lastname: Lin
authors.forename: Fuu-Jen
authors.initials: FJ
authors.lastname: Tsai
mesh_terms: D018797:Cell Cycle Proteins / Q000235:genetics* / Q000276:immunology / Q000378:metabolism; D004252:DNA Mutational Analysis; D004260:DNA Repair / Q000235:genetics / Q000276:immunology; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000453:epidemiology / Q000235:genetics* / Q000276:immunology* / Q000503:physiopathology; D009687:Nuclear Proteins / Q000235:genetics* / Q000276:immunology / Q000378:metabolism; D020641:Polymorphism, Single Nucleotide; D012306:Risk; D013624:Taiwan
chemical_list: D018797:Cell Cycle Proteins; C112156:NBN protein, human; D009687:Nuclear Proteins