Objective To analyze the relationship between polymorphism in CTLA^ gene extron 49 site and promoter 1722 and susceptibility to gastric cancer in Qingdao area. Methods Poiymerase chain reaction-restriction fragment length polymorphism and direct sequencing were performed to analyze the genotype of the polymorphism in 49 site and 1722 site. Their correlation with clinico-pathological characteristics of gastric cancer was analyzed. Results The frequency of AG and GG genotype in 49 site in gastric cancer group and alrophic gastritis group were higher than those in the control group( P <0. 05) ; and men with gastric cancer carried more AG and GG genotype than women. The frequency of all genotype in 1722 site in gastric cancer and atrophic gastritis group was not significantly different from control group. The single nucleotide polymorphism of promoter 1722 was not associated with gender,age, differentiation and TNM staging of gastric cancer. Conclusion There is a relationship between CTLA-4 + 49 A/G polymorphism and susceptibility to gastric cancer.%目的 探讨细胞毒性T淋巴细胞相关抗原4( CTLA-4)基因外显子49位点及启动子1722位点单核苷酸多态性(SNP)与青岛地区人群胃癌发病率的相关性.方法 采用聚合酶链反应-限制性片段长度多态法(PCR-RFLP)检测青岛地区胃癌患者、萎缩性胃炎及健康对照组患者中CTLA-4+ 49A/G及- 1722T/C基因多态性的分布,并分析其多态性与胃癌临床病理特征的关系.结果 萎缩性胃炎组及胃癌组CTLA-4外显子49位点AG及GG基因型的分布频率显著高于健康对照组(P＜0.05),携带AG及GG基因型者较携带AA基因型者罹患胃癌的风险分别增加至2.63倍(95％ CI:1.053 ～6.542)及5.69倍(95％ CI:2.262 ～ 14.302),且男性胃癌患者携带AG及GG基因型明显增加.与健康对照组相比,胃癌组及萎缩性胃炎组的CTLA-4启动子1722位点各基因型分布差异无统计学意义(P＞0.05),其多态性与胃癌患者的性别、年龄、肿瘤分化程度及TNM分期无相关性.结论 CTAL-4 +49A/G基因多态性与胃癌的遗传易感性相关.
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