MMP3基因Lys45Glu单核苷酸多态性与食管鳞癌遗传易感性的关系  

Association of the single nucleotide polymorphism (Lys45Glu) in exon 2 of the matrix metalloproteinase-3 gene with susceptibility to esophageal squamous cell carcinoma

作　　者：欧阳刚[1] 姚品芳[2] 胡文娟[1] 黄环元[2] 王红[1] 王朝元[1] 陈思礼[1] 王立东[3] 李劲[1] 

机构地区：[1]中南民族大学生命科学学院,湖北省武汉市430074 [2]湖北省肿瘤医院肿瘤研究所,湖北省武汉市430079 [3]郑州大学基础医学院癌症研究室,河南省郑州市450052

出　　处：《世界华人消化杂志》2009年第24期2456-2462,共7页World Chinese Journal of Digestology

基　　金：国家民委自然科学基金资助项目;No.MZY07004~~

摘　　要：目的:探讨基质金属蛋白酶3(matrix metallo proteinase3,MMP3)基因外显子2中Lys45Glu(rs679620)单核苷酸多态性与食管癌遗传易感的关系.方法:Chelex-100法提取DNA模板;PCR-RFLP方法对1127例包括湖北省、河南省食管鳞癌患者与两地正常人对照及河南移民样本的该SNP进行基因分型正常对照人群.结果:河南高发易感移民人群组与湖北正常人群对照组在GG、GA、AA3种基因型频率上均有极显著差异(均P<0.01);河南高发区鳞癌组与湖北正常人群对照组在A/A基因型频率上有显著差异(P<0.05);湖北人群与河南人群在GG和AA基因型频率上差异极显著(43.1%vs54.5%;14.8%vs8.5%,均P<0.01).结论:MMP3基因外显子2中Lys45Glu单核苷酸多态性与食管鳞癌的遗传易感性似有明显相关.AIM： To investigate the association of genetic susceptibility to esophageal squamous cell carcinoma （ESCC） with the single nucleotide polymorphism （SNP） rs679620 （Lys45Glu） in exon 2 of the matrix metalloproteinase-3 （MMP3） gene. METHODS： The SNP rs679620 （Lys45Glu） in exon 2 of the MMP3 gene was genotyped by PCR-RFLP analysis in 1127 samples, of which 317 were collected from ESCC patients （227 from Henan Province and 90 from Hubei Province） and 810 were collected from control populations （432 from Hubei Province, 197 from Henan Prov- ince and 181 from Henan emigrants in Hubei Province）. RESULTS： The frequencies of G/G, G/A and AA genotypes in SNP rs679620 were significantly different between emigrants from an area of high incidence of ESCC in Henan Province and healthy population in Hubei Province （all P 〈 0.01）. A significant difference was observed in the AA genotype frequency between ESCC patients from Henan Province and healthy controls from Hubei Province （P 〈 0.05）. Significant differences were also noted in the frequencies of GG and AA genotypes between healthy controls from Hubei Province and Henan Province （43.1% vs 54.5% and 14.8% vs 8.5%, respectively; both P 〈 0.01）. CONCLUSION： The SNP rs679620 （Lys45Glu） in exon 2 of the MMP3 gene may be associated with susceptibility to ESCC.

关 键 词：Chelex-100 基因组DNA提取 聚合酶链式反应-限制性片段长度多态性 SNP基因分型 食管癌 遗传易感 

分 类 号：R735.1[医药卫生—肿瘤]