食管癌易感性与细胞毒性T淋巴细胞相关抗原4基因多态性的关系

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-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-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.O1,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＜0.01,0R=5.035),而GAA单倍型则降低食管癌风险(P＜0.01,0R=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.

Association of cytotoxic T lymphocyte-associated antigent 4 gene polymorphism with susceptibility of esophageal cancer

Objective To investigate the distribution of the three polymorphisms of cytotoxic T lymphocyte-associated antigen 4 (CTLA4) gene and their association with susceptibility of esophageal cancer (EC). Methods Polymerase 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. Results 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 exon 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.