Background: Recently, a genetic polymorphism (rs968697 T>C) in HMGA2 gene has been reported to be associated with hepatoblastoma risk. However, no studies reported the effect of the polymorphism on the risk of colorectal cancer (CRC). The study aimed to explore whether rs968697 polymorphism had a significant impact on CRC risk.
Methods: A total of 500 CRC patients and 500 age and gender matched healthy individuals were genotyped by Sanger sequencing. Quantitative real-time PCR technology was used to detect the relative expression of HMGA2 gene in 30 pairs of primary CRC and adjacent non-cancerous tissues.
Results: HMGA2 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 HMGA2 rs968697 polymorphism was significantly associated with CRC tumor stage. In addition, the genotype-tissue expression showed that the rs968697 polymorphism was related to HMGA2 gene expression. The in silico analysis showed that rs968697 polymorphism located in the promoter region of HMGA2 gene could affect the binding of transcription factors.
Conclusion: Our study suggested that HMGA2 rs968697 polymorphism was associated with CRC risk and might serve as a reliable biomarker to detect CRC risk.
Running head: HMGA2 rs968697 T>C polymorphism and colorectal cancer