Abstract: To investigate the possible association of the transforming growth factor-beta receptor type 1 gene(TGFBR1)*6A and Int7G24A polymorphisms with susceptibility to esophageal squamous cell carcinoma(ESCC) in a population of north China. METHODS: Polymerase chain reaction(PCR) and polymerase-chain reaction-restriction fragment length polymorphism(PCR-RFLP) analyses were used to detect the genotype of *6A(exon 1) and Int7G24A(intron 7) polymorphisms in ESCC. The expression of TGFBR1 protein in tumors and corresponding normal tissues was detected by immunohistochemistry method. RESULTS: The genotype and allelotype distributions of TGFBR1 *6A polymorphism in ESCC patients were not significantly different from those in healthy controls(P＞0.05). The overall genotype and allelotype distributions of TGFBR1 Int7G24A polymorphism in ESCC patients were significantly different from those in healthy controls(P＜0.05). The A allelotype significantly elevated the risk of developing ESCC [ adjusted odds ratio(OR) =1.38, 95% confidence interval(CI) =1.04 - 1.75]. Compared with GG genotype, the AA genotype significantly increased the risk of developing ESCC(adjusted OR=2.23, 95%CI=1.19-3.81). Compared with GG genotype, GA and AA carriers of stage Ⅲ and Ⅳ had heightened risk(adjusted OR=1.61，95%CI=1.10 - 2.21). The protein expression of TGFBR1 in ESCC tumor tissues(32.1%) was significantly lower than that in corresponding normal tissues(97.7%)( P＜0.01 ). However, the protein expression did not correlate with genotypes of Int7G24A and *6A. CONCLUSION: A allelotype of TGFBR1 Int7G24A may be one of the factors that affects the risk of developing ESCC in northern China.

Key words: esophageal squamous cell carcinoma, polymorphism, transforming growth factor-beta receptor type 1, susceptibility