Association Between CYP1A1 Polymorphisms and Esophageal Cancer Susceptibility: A Case-control Study

Background/aim: Environmental and genetic factors (such as polymorphisms) contribute to the development of esophageal cancer (EC), but the disease's molecular genetic markers are not fully understood. The purpose of this study was to investigate previously unstudied cytochrome P450 (CYP)1A1 polymorphisms (rs2606345, rs4646421 and rs4986883) in EC.

Materials and methods: We performed real-time polymerase chain reaction (qPCR) to identify CYP1A1 polymorphisms (rs2606345, rs4646421, and rs4986883) in 100 patients and 100 controls.

Results: Smoking and tandoor fumes were significantly higher in all EC and esophageal squamous cell carcinoma (ESCC) patients compared to the control group (p<0.0001). The risk of EC was two-fold higher in hot tea drinkers compared to non-drinkers, but this factor was not significant for ESCC or esophageal adenocarcinoma (EAC) (p>0.05). The rs4986883 T>C polymorphism was not found in our population. The rs2606345 C allele was significantly associated with EC risk in men, and C-carriers who drank hot black tea had a nearly threefold higher risk of EC than non-drinkers. In addition, EC risk in hot black tea drinkers was approximately 12 times higher in rs4646421 A carriers than in non-A carriers, and approximately 17 times higher in the presence of both rs2606345 C allele and rs4646421 A allele. Furthermore, the rs2606345 AA genotype may act as a protective factor for the rs4646421 GG genotype.

Conclusion: Among the CYP1A1 polymorphisms, rs2606345 may increase the risk of EC only in men. The risk of EC in hot tea drinkers may increase in the presence of rs4986883 and rs2606345 polymorphisms.