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目的:探讨p21基因外显子的3′非翻译区(UTR)第20碱基对的单核苷酸多态性对食管鳞状细胞癌(ESCC)发生及淋巴结转移的影响。方法:采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法检测202例ESCC患者和265例健康对照的p21基因外显子的3′UTR第20碱基对单核苷酸多态性基因型。结果:ESCC患者的p21基因3′UTR的多态性基因型和等位基因型分布与健康对照组差异无统计学意义,P>0.05。根据吸烟状况的分层分析发现,与C/C基因型相比,携带T/T基因型可显著增加吸烟者的ESCC发病风险,经性别和年龄校正的OR值为3.36,95%CI为1.45～7.75;而在非吸烟的患者和健康对照之间差异无统计学意义,P>0.05。据淋巴结转移状况的分层分析,携带T/T基因型可明显增加ESCC患者淋巴结转移的风险,经性别和年龄校正的OR值为3.11,95%CI为1.28～7.52。结论:p21基因3′UTR的多态性基因型和等位基因型不单独影响ESCC的发生和发展。p21 3′UTR的T/T基因型可能增加中国北方吸烟人群ESCC易感性和ESCC患者淋巴结转移的风险性。
Objective: To investigate the effect of single nucleotide polymorphism (SNP) of the third base untranslated region (UTR) of p21 gene on the occurrence of esophageal squamous cell carcinoma (ESCC) and lymph node metastasis. Methods: PCR-RFLP was used to detect the 3’UTR 20 base pairs of single nucleotide in exon of p21 gene in 202 ESCC patients and 265 healthy controls Polymorphism genotypes. Results: The genotype and allele distribution of 3’UTR of p21 gene in ESCC patients were not significantly different from those in healthy controls (P> 0.05). Stratified analysis based on smoking status found that carrying the T / T genotype significantly increased the risk of developing ESCC in smokers compared to C / C genotypes, with an adjusted OR of 3.36 for gender and age, and a 95% CI of 1.45 ~ 7.75. There was no significant difference between non-smoking patients and healthy controls (P> 0.05). According to the stratified analysis of lymph node metastasis, carrying the T / T genotype can significantly increase the risk of lymph node metastasis in ESCC patients. The odds ratio was 3.11 by gender and age, and 95% CI was 1.28-7.52. Conclusion: Polymorphic genotypes and alleles of 3’UTR of p21 gene do not affect the occurrence and development of ESCC alone. T / T genotype of p21 3’UTR may increase ESCC susceptibility in smokers in North China and lymph node metastasis in patients with ESCC.