目的:探寻人类基质金属蛋白酶3(matrix metalloproteinase 3,MMP3)基因单核苷酸多态性与食管鳞癌易感性的关系.方法:选择mmp3基因上游转录调控区-774位rs522616(A/G)位点为研究对象.利用蛋白酶K法提取人类外周血基因组DNA;采用PCR-RFLP的方法对外周血标本进行基因分型,分别对河南食管鳞癌散发病例、湖北食管鳞癌散发病例以及两地正常人、河南高发区移民的不同人群组合做病例-对照分析.运用SPSS软件(version17.0)对基因分型结果进行数据统计分析.结果:rs522616(A/G)等位基因有AA、AG、GG3种分型.湖北正常人群与河南散发人群在AA基因型频率上有显著差异(P=0.001,OR=4.249),在GG基因型频率有差异(P=0.003,OR=4.424);湖北正常人群与河南高发区移民在GG基因型频率上有差异(P=0.019,OR=0.488);湖北散发人群和河南散发人群在GG基因型频率上有差异(P=0.04,OR=1.926)、在AA基因型频率上有显著差异(P=0.001,OR=0.282);河南散发患者与河南正常人群有在AA基因型频率上有显著差异(P=0.001,OR=1.893)、在AG基因型频率上有差异(P=0.049,OR=1.652);河南高发区移民与河南散发患者在AA基因型频率上有显著差异(P=0.005,OR=2.311)、在AG基因型频率上有差异(P=0.024,OR=0.549);另外,湖北人群(湖北正常人群+湖北散发患者)与河南人群(河南正常人群+河南散发患者)在AA基因型频率有显著差异(P=0.001,OR=2.553);湖北与河南两地的正常人群与两地的散发病例AA基因型频率有显著差异(P=0.001,OR=2.152).结论:MMP3基因上游转录调控区rs522616单核苷多态性与人群食管鳞癌的遗传易感性有明显相关. Objective: To explore the relationship between single nucleotide polymorphism of human matrix metalloproteinase 3 (MMP-3) gene and the susceptibility to esophageal squamous cell carcinoma.Methods: The rs522616 (A / G) Site as the research object.The genomic DNA of human peripheral blood was extracted by the method of proteinase K. The PCR-RFLP method was used to genotype the peripheral blood samples, the cases of esophageal squamous cell carcinoma in Henan province, esophageal squamous cell carcinoma of Hubei province, Normal subjects and immigrants from high incidence areas in Henan Province were case-control analysis.Results: The genotypes of rs522616 (A / G) were AA, AG (P = 0.001, OR = 4.249), and there was a significant difference in the frequency of GG genotypes (P = 0.003, OR = 4.424). Hubei province had a significant difference in frequency of AA genotypes There was a significant difference in GG genotype frequency between normal population and immigrants from high incidence areas in Henan (P = 0.019, OR = 0.488) There was a significant difference in AA genotype frequency (P = 0.0 (P = 0.001, OR = 1.283). There was a significant difference in the frequency of AG genotype (P = 0.049, OR = 1.652 (P = 0.005, OR = 2.311). There was a significant difference in the frequency of AG genotypes (P = 0.024, OR = 0.549). In addition, the frequency of AA genotype was significantly different between immigrants from Henan and those from Henan. There were significant differences (P = 0.001, OR = 2.553) in the frequency of AA genotype among the population (normal population in Hubei + patients distributed in Hubei Province) and Henan population (normal population in Henan + Henan Province) (P = 0.001, OR = 2.152) .Conclusion: The single nucleotide polymorphism of rs522616 in the upstream transcription regulation region of MMP3 gene is significantly associated with the genetic predisposition of esophageal squamous cell carcinoma.