title: The role of XRCC6 T-991C functional polymorphism in renal cell carcinoma.
abstract: BACKGROUND
  The DNA non-homologous end-joining repair gene XRCC6 (Ku70) plays a key role in both the DNA double-strand break (DSB) repair and cell cycle arrest. Defects in DSB repair capacity can lead to genomic instability. We hypothesized that a variant in the XRCC6 gene was associated with susceptibility to renal cell carcinoma (RCC).
  
  
  METHODS
  In a hospital-based case-control study of 92 patients with RCC and 580 cancer-free controls, the frequency matched by age and sex, the associations of XRCC6 promoter T-991C (rs5751129), promoter G-57C (rs2267437), promoter A-31G (rs132770), and intron 3 (rs132774) polymorphisms with RCC risk were investigated in a Taiwanese population. At the same time, 30 adjacent renal tissue samples were tested to estimate the XRCC6 mRNA expression by real-time quantitative reverse transcription.
  
  
  RESULTS
  Compared with the TT genotype, the TC genotype had a significantly increased risk of RCC [adjusted odds ratio=2.24, 95% confidence interval=1.25-4.08, p=0.0175]. The in vivo mRNA expression in renal tissues revealed a statistically significant lower XRCC6 mRNA expression in samples with TC/CC genotypes compared to those with the TT genotype (p=0.0039).
  
  
  CONCLUSIONS
  These evidence suggests that the XRCC6 T-991C genotype together with its mRNA expression are involved in the etiology of RCC and may be a marker for susceptibility to RCC in the population of Taiwan.
authors.affiliation: Graduate Institutes of Clinical Medical Science, China Medical University, Taichung, Taiwan, ROC. datian@mail.cmuh.org.tw
authors.forename: Wen-Shin
authors.initials: WS
authors.lastname: Chang
authors.forename: Hung-Lung
authors.initials: HL
authors.lastname: Ke
authors.forename: Chia-Wen
authors.initials: CW
authors.lastname: Tsai
authors.forename: Chi-Shun
authors.initials: CS
authors.lastname: Lien
authors.forename: Wen-Ling
authors.initials: WL
authors.lastname: Liao
authors.forename: Hui-Hui
authors.initials: HH
authors.lastname: Lin
authors.forename: Meng-Hsuan
authors.initials: MH
authors.lastname: Lee
authors.forename: Hsi-Chin
authors.initials: HC
authors.lastname: Wu
authors.forename: Chao-Hsiang
authors.initials: CH
authors.lastname: Chang
authors.forename: Chi-Cheng
authors.initials: CC
authors.lastname: Chen
authors.forename: Hong-Zin
authors.initials: HZ
authors.lastname: Lee
authors.forename: Da-Tian
authors.initials: DT
authors.lastname: Bau
mesh_terms: D000483:Alleles; D034961:Antigens, Nuclear / Q000096:biosynthesis / Q000235:genetics*; D002292:Carcinoma, Renal Cell / Q000235:genetics*; D016022:Case-Control Studies; D004268:DNA-Binding Proteins / Q000096:biosynthesis / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007680:Kidney Neoplasms / Q000235:genetics*; D000072200:Ku Autoantigen; D008297:Male; D008875:Middle Aged; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D012333:RNA, Messenger / Q000096:biosynthesis / Q000235:genetics
chemical_list: D034961:Antigens, Nuclear; D004268:DNA-Binding Proteins; D012333:RNA, Messenger; C000606509:Xrcc6 protein, human; D000072200:Ku Autoantigen