Genetic variations in and genes are associated with renal cell carcinoma risk in a Chinese Han population.

Renal cell carcinoma (RCC) is a common malignant tumor of the urinary system, the pathogenesis of RCC is still unclear. It is reported that genetic variations in telomere length related-genes and are involved in the many types of cancers. However, little is known about the association between and polymorphisms and susceptibility to RCC risk. To solve this problem, a total of 293 patients with primary renal cell carcinoma and 459 healthy people were recruited in our study. Six SNPs of and were genotyped, and association analysis was performed. We found -rs35073794 and -rs10069690 were associated with an increased risk of RCC in an allele model. (OR =2.39, 95% CI = 0.99-5.80, p = 0.047; OR =1.39, 95% CI = 1.07-1.81, p = 0.014, respectively). The genotype "TC" of rs10069690 was associated with an increased risk of RCC in the genotype model. (OR =1.52, 95% CI = 1.11-2.08, p = 0.009).-rs35073794 was associated with an increased risk of RCC in the codominant model. (OR =2.61, 95% CI = 1.01-6.76, = 0.045). Rs10069690 was associated with an increased risk of RCC under the dominant model. (OR=1.44, 95% CI= 1.04-2.01, = 0.03). Haplotype "CA" was found to be associated with a decreased risk of RCC while haplotype "TA" was associated with an increased risk of RCC without adjustment for gender, age and body mass index (BMI). (OR=0.07; 95% CI= 0.01-0.54; =0.011; OR= 1.24; 95% CI= 0.92-1.65; =0.013, respectively). Rs35073794, rs10936599 and rs10069690 were positively correlated with the age older than 55 (OR= 3.27, 95%CI= 1.08-9.93, =0.031; OR= 1.56, 95%CI= 1.03-2.37, 0.034; OR= 4.94, 95%CI= 1.18-20.70, 0.022, respectively) with or without history of drinking(OR= 4.47, 95%CI= 0.99-20.25, 0.024 OR= 2.62, 95%CI= 1.13-6.08, 0.022 OR=2.44, 95%CI=1.03-5.78, = 0.04, respectively) and clinical stage I/II RCC (OR=2.62, 95%CI=1.02-6.74, = 0.045; OR= 2.23, 95%CI= 1.08-4.60, 0.028; OR= 1.63, 95%CI= 1.17-2.27, = 0.014, respectively). Our study indicated a significant association between SNPs in the , and RCC risk in a Chinese Han population. It could be used as diagnostic and prognostic markers in clinical studies of renal cell carcinoma patients.