摘要
目的探讨细胞毒性T淋巴细胞相关抗原4（CTLA4）基因3个位点基因型及单倍型频率分布与食管癌易感性的关系。方法应用聚合酶链反应一限制性片段长度多态性（PCR—RFLP）方法，检测205例食管癌患者（男113例，女92例）和205例与病例组同性别、同年龄的正常对照者CTLA4基因第一外显子区＋49A／G、启动子区一1661A／G和-1772A／G位点的基因型，采用条件Logistic回归模型分别进行基因多态性、单倍型与食管癌易感性的相关分析。结果CTLA4＋49位点基因型AG和AA均增加食管癌发病风险（P〈0．01，OR=2．280；P〈0．01，OR=2．192）。-1661位点AG基因型频率在病例组也高于对照组（P〈0．01，OR=1．848），而GG基因型在两组间分布差异无统计学意义（P〉0．05）；-1772位点各基因型频率在病例组和对照组分布差异均无统计学意义（P〉0．05）。单倍型分析显示AAG单倍型可增加食管癌的风险（P〈0．01，OR=5．035），而GAA单倍型则降低食管癌风险（P〈0．01，OR=0．413）。结论CTLA4基因＋49A／G和-1661A／G位点基因多态性与食管癌易感性相关，单倍型分析进一步证实AAG单倍型为食管癌的危险因素，而GAA单倍型是其保护因素。
Objective To investigate the distribution of the three polymorphisms of cytotoxic T lymphocyte-associated antigen 4 （CTLA4） gone and their association with susceptibility of esophageal cancer （EC）. Methods Polymerasc chain reaction-restricted fragment length polymorphism （PCR-RFLP） method was used to detect the genotype of CTLA4 three polymorphism sites in 205 patients （ 113 males and 92 females ） and 205 gender-age-matched control individuals. The associations of genetic polymorphisms and haplotypes of them with susceptibility of EC were analyzed by conditional logistic regression model. Resuits The AA and AG genotypes of ＋ 49A/G increased the risk of EC （P 〈 0. 01, OR = 2. 192;P 〈 0. 01, OR =2. 280, respectively）. The AG genotype of -1661A/G was also more in EC group than in control group （ P 〈 0. 01, OR = 1. 848 ）. The distribution of GG genotype had no difference between the two groups （ P 〉 0. 05 ）. - 1772 site was also not associated with ESCC susceptibility （ P 〉 0. 05 ）. Haplotype AAG increased the risk of EC （ P 〈 0. 01, OR = 5.035 ）, but haplotype GAA played a protective role （ P 〈 0. 01, OR = 0.413 ）. Conclusion The polymorphisms of CTLA4 cxon 1 ＋ 49A/G and promoter -1661A/G are associated with susceptibility of EC. Further association study confirmed that haplotype AAG is the risk factor of EC, but GAA played a protective role.
出处
《中华实验外科杂志》
CAS
CSCD
北大核心
2011年第8期1264-1267,共4页
Chinese Journal of Experimental Surgery
