中文摘要：

目的探讨亚甲基四氢叶酸还原酶（MTHFR）基因多态位点及其联合作用与新疆地区汉族食管癌之间的关系。方法采用病例对照研究,应用聚合酶链式反应-连接酶检测反应（PCR-LDR）技术,对MTHFR基因7个tagSNPs多态位点进行检测。结果MTHFR基因rs9651118和rs1801133位点不同基因型在病例组和对照组之间的分布均有统计学意义（χ2=3.89,P=0.049;χ2=9.99,P=0.007）;即携带rs9651118位点C等位基因者发生食管癌的风险降低（OR=0.59,OR95%CI：0.36～0.99）,rs1801133位点携带CT和TT基因型者发生食管癌的风险增加,分别是携带CC基因型者发生食管癌危险性的2.21倍（95%CI：1.05～4.69）和3.45倍（95%CI：1.59～7.48）。同时携带rs9651118 TT基因型与rs1801133CT＋TT基因型的个体发生食管癌的危险性最大（χ2=6.94,P=0.008;OR=3.55,95%CI：1.38～9.13）。结论在本试验条件下,MTHFR基因SNP多态位点与食管癌的易感性有关。

英文摘要：

Objective To determine the association of 5,10-methylenetetrahydrofolate reductase（MTHFR） polymorphisms with the susceptibility of esophageal cancer in Han nationality in Xinjiang.Methods A case-control study was conducted.The polymorphisms of MTHFR gene at rs3753582,rs1801131,rs11121832,rs9651118,rs13306553,rs1801133 and rs13306561 were analyzed by polymerase chain reaction-ligase detection reaction（PCR-LDR） methods in 107 esophageal cancer cases and 204 non-cancer controls.Results The genotypes of MTHFR gene rs9651118 and rs1801133 had significant between cases and controls（χ2 =3.89,P=0.049;χ2=9.99,P=0.007）.The subjects with rs9651118 position C allele had a decreased risk of esophageal cancer（OR=0.59,OR95%CI：0.36～0.99）.There was a 2.21-fold（95%CI：1.05～4.69） increased risk of esophageal cancer in subjects with rs9651118 CT genotype compared with those carrying CC genotype,and there was a 3.45-fold（95%CI： 1.59～7.48） increased risk of esophageal cancer in subjects with rs9651118 TT genotype compared with those carrying CC genotype.The subjects with rs9651118 TT genotype and rs1801133 CT＋TT genotype had a 3.55-fold（95%CI：1.38～9.13） increased risk of esophageal cancer.Conclusion MTHFR gene rs9651118T/C and rs9651118C/T polymorphisms are likely to be associated with the susceptibility to esophageal cancer.