Genetic variants in macrophage colony-stimulating factor are associated with risk of renal cell carcinoma in a Chinese population

Objective: This study was performed to investigate whether CSF-1 polymorphisms influenced the risk of renal cell carcinoma in a Chinese population.

Methods: The potentially functional polymorphisms in CSF-1 (rs333951 and rs2050462) were genotyped in this hospital-based case-control study, comprising 1512 renal cell carcinoma patients and 1691 controls in a Chinese population using the TaqMan assay. Furthermore, odds ratios (ORs) and 95% confidence intervals (CI) were used to estimate such an association. The logistic regression was used to assess the association between these genetic polymorphisms and the risk of renal cell carcinoma.

Results: We found the genotype and allele frequency distribution of rs2050462 were significantly associated with the increasing risk of renal cell carcinoma ( P = 0.007). However, no statistical significance was found in the association between CSF-1 rs333951 polymorphism and the susceptibility of renal cell carcinoma ( P = 0.589). The analysis of combined risk alleles revealed that patients with two to four risk alleles showed no elevated risk of renal cell carcinoma compared to those with zero to one risk alleles (adjusted OR 1.09; 95% CI 0.95, 1.26; P = 0.226). Furthermore, compared with the genotypes containing A allele (AC and AA), the patients carrying the CC genotype in rs2050462 had a significantly greater prevalence of clinical stage II and IV (adjusted OR 0.67; 95% CI 0.47, 0.94; P = 0.021; adjusted OR 0.50; 95% CI 0.29, 0.88; P = 0.015, respectively).

Conclusions: The functional rs2050462 in CSF-1 might have a substantial influence on the renal cell carcinoma susceptibility and evolution in the Chinese population.