Purpose: The aim of this study was to screen the predisposed population and explore possible interactions between genetic polymorphisms and risk factors involved in the tumorigenesis and progression of ESCC (esophageal squamous cell carcinoma), in hope of identifying possible therapeutic targets along the way.
Patients and Methods: Cases (1043) and controls (1315) were enrolled to evaluate the possible association between MAP3K1  SNPs and ESCC risk. Subgroup analyses include MAP3K1  variants, gender, age, smoking and drinking status.
Results: Among all three single locus polymorphisms of MAP3K1 , only the heterozygote genotype of rs702689 AG is shown to be associated with increased risk for developing ESCC (OR=1.272, 95% confidence interval=1.061– 1.525, p=0.009). Moreover, stratified analysis results observed altered susceptibility among patients with exposure to risk factors combined with certain genetic variant to ESCC.
Conclusion: This study reveals that MAP3K1  rs702689 AG genotype might facilitate the tumorigenesis in ESCC, particularly among women, patients who were over 63y and those who never drink nor smoke.
Keywords: single nucleotide polymorphism, esophageal cancer