Investigation of TCF7L2, LEP and LEPR polymorphisms with esophageal squamous cell carcinomas

Single nucleotide polymorphisms (SNPs) in energy metabolism related gene may be key agents in the development of human malignancies. In this study, we aimed to examine the association of , ( ) and ( ) polymorphisms with esophageal squamous cell carcinoma (ESCC). A total of 507 ESCC cases and 1,496 controls were enrolled. We found that rs6588147 AA genotype was associated with ESCC risk (AA vs. GG/GA: adjusted OR=1.90, 95%CI=1.00-3.61, =0.049). In the stratified analyses, rs6588147 G>A polymorphism increased the risk of ESCC (G decreased the risk of ESCC (≥63 years subgroup: GG vs. AA: adjusted OR=0.47, 95%CI=0.23-0.95, =0.035 and GG vs. AA/AG: adjusted OR=0.48, 95%CI=0.24-0.96, =0.038; BMI≥24 kg/m subgroup: AG vs. AA: adjusted OR=0.66, 95%CI=0.45-0.99, =0.044). In addition, rs1137101 G>A polymorphism decreased ESCC risk in some subgroups (ever smoking subgroup: GA vs. GG: adjusted OR=0.66, 95%CI=0.44-1.00, =0.049; ever drinking subgroup: GA vs. GG: adjusted OR=0.54, 95%CI=0.31-0.95, =0.031 and GA/AA vs. GG: adjusted OR=0.54, 95%CI=0.31-0.93, =0.027). Our findings suggest that rs6588147 G>A polymorphism is associated with the increased risk of ESCC; however, rs7799039 A>G and rs1137101 G>A polymorphisms may be protective factors for ESCC.