Association of CXCL12 and CXCR4 gene polymorphisms with the susceptibility and prognosis of renal cell carcinoma.

CXCL12 and its unique receptor CXCR4, play important roles in inflammation and cancer metastasis. This study was undertaken to investigate the association of CXCL12 and CXCR4 polymorphisms with risk and prognosis of renal cell carcinoma (RCC) in the Chinese population. Blood was collected from 322 RCC patients and 402 healthy controls. The CXCL12 rs1801157G/A polymorphism and CXCR4 rs2228014C/T polymorphism were genotyped by polymerase chain reaction-restriction fragment length polymorphism. Results showed that prevalence of CXCL12 rs1801157AA genotype was significantly increased in RCC cases than in controls [odds ratio (OR) = 3.07, 95% confidence interval (CI), 1.98-5.46, P = 6.1 × 10(-6) ; data were adjusted for age and sex]. Similarly, subjects carrying CXCR4 rs2228014CT or TT genotypes showed significantly high risk of RCC (OR = 1.77, 95% CI, 1.28-2.71, P = 0.0003; OR = 4.01, 95% CI, 1.87-9.12, P = 7.8 × 10(-4) , respectively; data were adjusted for age and sex). When analyzing the survival time of RCC, patients with CXCL12 rs1801157AA genotype revealed significantly shorter survival time compared to cases with CXCL12 rs1801157GG and GA genotypes (P = 0.001), whereas RCC patients carrying CXCR4 rs2228014CT and TT genotypes showed shorter survival time than the wild type (P = 0.002). These data indicated that CXCL12 and CXCR4 may be new risk factors for RCC and could be used as prognostic markers for this malignancy.