Objective To study the distribution of the polymorphisms of MDM2 gene in southwest Shandong Han population and evaluate the association between MDM2 gene polymorphisms and susceptibility of esophageal squamous cell carcinoma ( ESCC). Methods The polymorphisms of MDM2 at SNP309 position were analyzed by polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) technique in 132 ESCC cases (disease group) and 132 health people (control group). The frequencies of genotype and allele and the associations between the genetic polymorphisms and cancer risk were analyzed. Results The genotypic frequency distribution of the polymorphisms of MDM2 gene in southwest Shandong Han population conformed to Hardy-Weinberg law. The mutation allele frequency of MDM2 SNP3O9 in control group and disease group was 37.50% and 45.45% , respectively. No significant difference was observed between the two groups (P > 0.05 ). The G/G genotype frequency of SNP309 in control group and disease group was 10.61% and 18.94% , respectively, which had the significant difference between the two groups (P < 0.05 ), and it could increase the risk of ESCC (OR =2. 27 ;95% CI:1.04 -4.97). Conclusion The G/G genotype of SNP3O9 may be an important hereditary factor which influence the occurrence of ESCC.%目的 研究MDM2基因多态性在鲁西南汉族人群中的分布并分析其与食管鳞状细胞癌的相关性.方法 采用聚合酶链反应-限制性内切酶片段长度多态性(PCR-RFLP)技术分析检测132例食管鳞状细胞癌患者(病例组)和132例健康人群(对照组)MDM2 SNP309的基因多态性,并比较不同基因型与食管鳞状细胞癌发病风险的关系.结果 MDM2 SNP309位点在鲁西南汉族群体中的基因型频率分布均符合Hardy-Weinberg平衡定律.对照组和病例组MDM2 SNP309基因座位上突变等位基因频率分别为37.50％和45.45％,差别无统计学意义(P＞0.05)；SNP309基因座中突变等位基因G的纯合子G/G基因型频率分别为10.61％和18.94％,差别具有统计学意义(P＜0.05)；MDM2 SNP309的G/G基因型可增加食管鳞状细胞癌的发病风险(OR=2.27；95％CI:1.04～4.97).结论 MDM2基因SNP309位点的G/G基因型可能与鲁西南地区食管鳞状细胞癌的发病风险增高具有相关性.
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