基质金属蛋白酶-2基因多态性与高度近视的关联研究  

Association of single nucleotide polymorphisms in MMP2 gene with high myopia

作　　者：查屹[1] 林达[1] 冯旺强[1] 韩晓辉[1] 杨顺海[1] 郑海华[1] 蔡剑秋[1] 

机构地区：[1]浙江省温州医学院附属第二医院眼科,325000

出　　处：《实用医学杂志》2013年第22期3661-3663,共3页The Journal of Practical Medicine

基　　金：温州市科技计划项目(编号:Y20100189);温州市科技计划项目(编号:H20080030)

摘　　要：目的：研究中国汉族人群基质金属蛋白酶2与高度近视关联的位点．揭示与高度近视相关的发病环节。方法：本研究采取病例一对照关联分析，随机选取200名高度近视（要求近视度数≤-6．00D），及200名无相关的对照正视眼样本（要求双眼屈光不正在＋/-0．50D之间），提取全血DNA样本。选取基质金属蛋白酶2（MMP2）SNP rs9928731进行基因型的检测。根据样本所得SNP基因型，计算其基因型与等位基因的频率；采用卡方检验比较病例-对照组之间基因型与等位基因频率分布的差异。结果：高度近视组rs9928731基因型（TT，TC，CC）的频率分别为46％，21．5％，32．5％，而对照组正视眼等位基因（TT，TC，CC）的频率则为48％，21．5％，30．5％。等位基因分布在两组间差异无显著性。疾病比值比（OR）和95％可信区间提示，低频等位基因（C）可能会减少高度近视的发病风险（OR=0．921，C／=0．696～1．220）。结论：MMP2 SNP rs9928731与高度近视无明显关联。Objective To explore the locus of matrix metal loproteinase-2 （MMP2） associated with high myopia in order to learn the etiologies of high myopia. Methods A case-control association study was conducted. 200 patients with high myopia （spherical equivalent equal to or higher than 6.00D） and 200 normal people （spherical equivalent equal to ＋/-0.50D）. DNA was extracted from blood samples. SNP rs9928731 was selected for genotyping. According to the genotyping results, the allele frequency and genotyping frequency were counted. Results The frequency of the genotypes in high myopia group was 45% for TT, 21.5% for TC, and 32.5% for CC ; and that in the control group was 48% for TT, 21.5% for TC, and 30.5% for CC. There was no significant difference between the two groups. People with C allele were at a lower risk of developing high myopia （OR=0.921, CI=0.696- 1.220）. Conclusions Matrix metalloproteinase-2 rs9928731 is not rr,arkedly associated with high myopia.

关 键 词：高度近视 单核苷酸多态性 基质金属蛋白酶2 关联分析 

分 类 号：R778.11[医药卫生—眼科]