P21基因多态性及华北食管癌相关性.docVIP

P21基因多态性及华北食管癌相关性 　 作者：马玉泉，杨晓光，刘晖，李保庆，刘俊峰 【摘要】 　　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： 选择202例ESCC患者和265例健康对照个体，采集静脉抗凝血5 mL，同时收集病史、个人及肿瘤家族史. 以蛋白酶K消化饱和氯化钠盐析法提取外周血白细胞DNA，分别采用PCR片断长度分析和PCR限制性片段长度多态性（RFLP）方法检测P21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（Pgt;0.05）. ESCC 吸烟组患者P21的T/T基因型频率（26.0%）显著高于健康吸烟组（12.0%, χ2=8.60, P=0.014）. 与C/C基因型相比，携带T/T基因型可增加吸烟者的ESCC发病风险（经性别和年龄校正的OR值为3.36，95%CI=1.45-7.75）. 而在非吸烟的患者和健康个体中，P21的基因型及等位基因型频率均差异无统计学意义（Pgt;0.05）. 有淋巴结转移组的P21的T/T基因型频率（26.4%）高于无淋巴结转移组（15.3%, χ2=6.128, P=0.013）. 与常见基因型C/C相比，携带T/T基因型可增加ESCC患者淋巴结转移的风险，经性别、年龄校正的OR值分别为3.11（95%CI=1.28-7.52）. 结论： P21 3UTR的T/T基因型可能增加中国北方吸烟人群ESCC易感性并可能增加ESCC患者淋巴结转移的风险性. 【关键词】 食管肿瘤；癌，鳞状细胞；基因，P21；多态现象，遗传；疾病易感性；淋巴转移 　 【Abstract】 AIM: To explore the influence of the single nucleotide polymorphism variants(SNPs) in the 3untranslated region (3UTR)of P21 gene on the development and lymphatic metastases of esophageal squamous cell carcinoma (ESCC). METHODS: The hospitalbased casecontrol study included 202 ESCC patients and 265 healthy controls. Genomic DNA was extracted by using proteinase K digestion followed by a saltingout procedure. The SNPs of P21 were analyzed by polymerase chain reaction (PCR)fragment length analysis and PCRrestriction fragment length polymorphism analysis (PCRRFLP). RESULTS: The overall genotype and allelotype distributions of P21 3UTR polymorphisms in ESCC patients were not significantly different from those in healthy controls(Pgt;0.05). Stratification analysis revealed that the P21 gene TT allele frequency in smoking patients (26.0%) was significantly higher than that in healthy smokers (12.0%, χ2=8.60, P=0.014). Therefore, compared with P21 C/C genotype, smokers with the T/T genotype significantly had a higher risk to develop ESCC (sex and age adjusted A=3.36, 95% CI=1.45-7.75). However, P21 allele was not significantly different in both nonsmoking ESCC group and healthy group (Pgt;0.05). The