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目的探讨胸苷酸合成酶(TS)5′非编码区(UTR)串联重复序列和3′UTR6bp缺失或插入多态性对食管鳞状细胞癌(ESCC)的发生及淋巴结转移的作用。方法从232例ESCC患者和348例健康对照者的外周血中提取白细胞DNA,分别用PCR片段长度和PCRRFLP方法检测TS5′UTR和3′UTR基因型。结果TS5′UTR、3′UTR的基因型和等位基因型分布在ESCC患者与健康对照者中,差异无统计学意义,它们不单独作用于ESCC的发生和发展。但这两种多态性联合分析显示,同时携带3R/3R及6bp+/6bp+基因型的个体,其患ESCC的危险性显著低于携带其他基因型组合的个体(校正OR=0.32,95%CI=0.08～0.92)。5′UTR2R/3R基因型显著增加ESCC淋巴结转移的危险性(校正OR=3.68,95%CI=1.54～8.93)。结论TS5′UTR重复序列多态性和3′UTR缺失多态性联合分析可作为预测ESCC易感性的标志,而5′UTR2R/3R可作为预测ESCC淋巴结转移的候选分子指标。
Objective To investigate the effect of 5 ’untranslated region (UTR) tandem repeats of thymidylate synthase (TS) and 3’ UTR 6 bp deletion or insertion polymorphism on the occurrence of esophageal squamous cell carcinoma (ESCC) and lymph node metastasis. Methods Leukocyte DNA was extracted from peripheral blood of 232 ESCC patients and 348 healthy controls. The genotypes of TS5’UTR and 3’UTR were detected by PCR fragment length and PCRRFLP method, respectively. Results The genotypes and alleles of TS5’UTR and 3’UTR were not significantly different between ESCC patients and healthy controls. They did not act on the occurrence and development of ESCC alone. However, the combined analysis of these two polymorphisms showed that individuals with both 3R / 3R and 6bp + / 6bp + genotypes had a significantly lower risk of developing ESCC than those with other genotype combinations (adjusted OR = 0.32, 95% CI = 0.08 ~ 0.92). The 5 ’UTR2R / 3R genotype significantly increased the risk of ESCC lymph node metastasis (corrected OR = 3.68, 95% CI = 1.54-8.93). Conclusion The combined analysis of TS5’UTR repeat polymorphism and 3’UTR deletion polymorphism can be used as a marker to predict the susceptibility of ESCC, and 5’UTR2R / 3R can be used as a candidate molecular marker for predicting lymph node metastasis in ESCC.