rs968697 T > C polymorphism is associated with the risk of colorectal cancer.

A genetic polymorphism (rs968697 T > C) in the gene has recently been linked to an increased risk of hepatoblastoma. However, no studies have been conducted to investigate the effect of the polymorphism on the risk of colorectal cancer (CRC). The study aimed to explore whether the rs968697 polymorphism had a significant impact on CRC risk. A total of 500 CRC patients and 500 age and gender matched healthy individuals were genotyped by using the SNaPshot method. Quantitative real-time PCR technology was used to detect the relative expression of the gene in 30 pairs of primary CRC and adjacent non-cancerous tissues. rs968697 polymorphism was significantly associated with CRC risk [CC vs. TT: OR = 0.20, 95%CI = 0.06-0.70, P = 0.01; (CC + CT) vs. TT: OR = 0.71, 95%CI = 0.53-0.96, P = 0.02; CC vs. (CT + TT): OR = 0.21, 95%CI = 0.06-0.73, P = 0.01; C vs. T: OR = 0.67, 95%CI = 0.51-0.89, P < 0.01]. The analysis based on tumor stage indicated that the CRC patients with rs968697 C allele were less likely to have high-stage tumors. Furthermore, the genotype-tissue expression analysis revealed that the rs968697 CC genotype was linked to the low expression of gene. The in silico analysis revealed that the rs968697 polymorphism in the promoter region of the gene could influence transcription factor binding, including ATF6, DBP, CDPCR3, DR3, NRSF, PAX8, PPARA, SZF11, TAXCREB and POLR2A. In conclusion, our findings suggested that the rs968697 polymorphism was linked to CRC risk and could be used as a biomarker to detect CRC risk.