title: Association of Ku70 A-31G polymorphism and risk of renal cell carcinoma in a Chinese population.
abstract: The DNA repair gene Ku70 plays a key role in the DNA double-strand breaks (DSBs) repair system. Defects in DSBs repair capacity can lead to genomic instability. We hypothesized that the Ku70 A-31G polymorphism (rs132770) was associated with the risk of renal cell carcinoma (RCC). In a hospital-based case-control study of 620 RCC patients and 623 cancer-free controls frequency matched by age and sex, we genotyped the functional polymorphism Ku70 A-31G (rs132770). Thirty-eight normal renal tissue samples with different genotypes were tested to estimate the Ku70 mRNA expression by real-time quantitative reverse transcription. Compared with the GG genotype, the GA and GA/AA genotypes had a significantly decreased risk of RCC [adjusted odds ratio (OR) = 0.62, 95% confidence interval (CI) = 0.44-0.87 for GA, and OR = 0.62, 95% CI = 0.45-0.86 for GA/AA]. The in vivo experiments with normal renal tissues revealed that a statistically significantly higher Ku70 mRNA expression was identified in samples with GA/AA genotypes compared with those with GG genotypes (p = 0.001). These results suggested that the Ku70 A-31G polymorphism is involved in the etiology of RCC and, thus, may be a marker for genetic susceptibility to RCC in the Chinese populations.
authors.affiliation: State Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing, China.
authors.forename: Wei
authors.initials: W
authors.lastname: Wang
authors.forename: Yanqin
authors.initials: Y
authors.lastname: Gao
authors.forename: Fu
authors.initials: F
authors.lastname: Yan
authors.forename: Meilin
authors.initials: M
authors.lastname: Wang
authors.forename: Feifei
authors.initials: F
authors.lastname: Hu
authors.forename: Dingxian
authors.initials: D
authors.lastname: Wang
authors.forename: Qiang
authors.initials: Q
authors.lastname: Cao
authors.forename: Chao
authors.initials: C
authors.lastname: Qin
authors.forename: Changjun
authors.initials: C
authors.lastname: Yin
authors.forename: Zhengdong
authors.initials: Z
authors.lastname: Zhang
authors.forename: Xuping
authors.initials: X
authors.lastname: Pan
mesh_terms: D034961:Antigens, Nuclear / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D002292:Carcinoma, Renal Cell / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D015972:Gene Expression Regulation, Neoplastic / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D007680:Kidney Neoplasms / Q000235:genetics*; D000072200:Ku Autoantigen; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism
chemical_list: D034961:Antigens, Nuclear; D004268:DNA-Binding Proteins; D012333:RNA, Messenger; C000606509:Xrcc6 protein, human; D000072200:Ku Autoantigen