江苏淮安人群食管癌发病危险与易感基因多态性

目的探讨江苏淮安食管癌高发地区人群食管癌相关代谢酶基因与DNA修复酶基因的分布特征,为食管癌的病因学研究及该地区人群食管癌一级预防提供依据.方法通过1:1配对病例-对照研究,应用PCR-RFLP技术分析106对原发性食管癌患者及其对照样本代谢酶基因CYP1A1、CPY2E1、GSTM1、GSTT1和DNA修复酶基因XPD、XRCC1的多态性.结果CYP1A1、CYP2E1、GSTM1、GSTT1基因多态性与淮安人群食管癌易感性升高之间没有明显相关性.XPD基因多态性和XRCC1基因194位点多态性未见与食管癌易感性相关;XRCC1基因399位点的多态性与食管癌易感性相关,携带突变纯合子Gln/Gln的个体患食管癌的易感性显著高于对照人群(OR=3.447,95%CI=1.078～11.026,P=0.029).代谢酶基因与DNA修复酶基因在食管癌发生中交互作用的分析发现,CYP2E1基因突变基因型与GSTT1基因缺失型同时存在的个体,其患食管癌的危险性下降(OR=0.305,95%CI=0.116～0.802);同时,XRCC1基因194位点与399位点的突变基因型也可使食管癌发生的危险性有所降低(OR=0.329,95%CI=0.121～0.897).结论XRCC1基因399位点多态性与淮安人群食管癌易感性有关;相关基因之间存在一定的交互作用,这种交互作用对基因功能的影响及其在食管癌发生中的意义值得深入探讨.

Polymorphisms of susceptible genes for esophageal cancer risk in Huaian population in Jiangsu province

Objective Relationships between genetic polymorphisms and esophageal cancer risk in Huaian population in Jiangsu province were studied. It contributes to develop etiology and primary prevention of esophageal cancer. Methods One : one case-control study with 106 pairs was conducted. The PCR-RFLP was applied to detect genetic polymorphisms of CYP1A1 ,CPY2E1, GSTM1, GSTT1, XPD and XRCC1 genes for both esophageal cancer cases and their controls. Results No significant relationship was observed between the polymorphisms of CYP1A1, CYP2E1, GSTM1, GSTT1, XPD and XRCC1 Argl94Trp and e-sophageal cancer risk. XRCC1 Arg399Gln increased esophageal cancer risk (OR = 3. 447,95%CI= 1. 078 - 11. 026,P = 0. 029). Results of related gene interaction showed the reduce risk of esophageal cancer in individuals with CYP2E1 (wt/mt + mt/mt) and GSTT1 (null)(OR = 0. 305,95%CI = 0. 116-0. 802); lower risk of esophageal cancer among individuals with XRCC1 codon 194 (Arg/Trp + Trp/Trp)and codon 399 (Arg/Gln+ Gln/Gln) were observed (OR = 0. 329, 95%CI = 0. 121-0. 897). Conclusion Polymorphism of XRCC1 codon 399 may be related to esophageal cancer susceptibility in Huaian population. There is an interaction among susceptible genes and we should further explore interaction among related genes of esophageal cancer and their impact on gene function.