MMP-7和MMP-9基因多态与子宫内膜异位症发病风险的关联研究  

Study on the association between matrix metalloproteinase-7 and matrix metalloproteinase-9 promoter single nucleotide polymorphism and the risk of endometriosis

作　　者：康山 杜慧[1] 王娜[2] 郭炜[2] 金霞[2] 方淑梅[2] 张健慧[2] 李琰[2] 

机构地区：[1]河北医科大学第四医院妇产科,石家庄050011 [2]河北省肿瘤研究所

出　　处：《中华流行病学杂志》2006年第7期623-626,共4页Chinese Journal of Epidemiology

摘　　要：目的探讨MMP-7和MMP-9基因启动子区多态性与中国北方妇女子宫内膜异位症遗传易感性的关系。方法采用聚合酶链反应-限制性片段长度多态性技术,检测143例子宫内膜异位症患者和160名健康妇女对照的MMP-7基因启动子区-181A/G多态位点和MMP-9基因启动子区-1562C/T多态位点的基因型。结果子宫内膜异位症患者MMP-7中G等位基因频率(7．3％)明显高于对照组(2．8％)(X2=6.59,P=0.01);子宫内膜异位症患者A/A、A/G、G/G三种基因型频率分别为86.0％、13.3％和0.7％,正常对照组则分别为94.4％、5.6％和0％,两者有显著差异(X2=6.50, P=0.039);与A/A基因型相比,携带G等位基因能明显增加子宫内膜异位症的发病风险,经年龄校正的OR值为2.71(95％CI:1.19-6.16)。MMP-9中C和T等位基因频率在病例组和对照组分别为88.8％、11.2％及91.9％、8.1％,两组差异无统计学意义(X2=1.64,P=0.20);病例组C/C、C/T和T/T基因型频率分别为78.3％、21％和0．7％,对照组则分别为83．8％、16．2％和0％,两者差异亦无统计学意义(X2=2．31,P=0．32)。与C／C基因型相比,携带T等位基因未能明显增加子宫内膜异位症的发病风险,经年龄校正的OR值为1．41(95％CI:0．79-2．52)。结论MMP-7基因启动子区-181A/G多态与子宫内膜异位症发病存在关联,携带G等位基因可能增加该病的发病风险;未发现MMP-9基因启动子区-1562C／T多态性则与子宫内膜异位症发病存在关联。Objective To investigate the association of single nucleotide polymorphism （SNP） in the matrix metalloproteinase-7 （ MM-7 ） and matrix metalloproteinase-9 （ MM-9 ） promoter with the susceptibility to endometriosis. Methods The SNP of the MMP-7 and MMP-9 gene promoter region was genotyped by polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） in 143 endometriosis patients and 160 unrelated healthy women. Results The G allele frequency of MMP-7 among endometriosis was significantly different from the control group（χ^2= 6.59, P=0.01）. The genotype frequencies of A/A, A/G, G/G in the case were 86.0 % , 13.3 % , 0.7 % , respectively which were significantly different from that of healthy controls（ 94.4 % , 5.6 % , 0 % ） （χ^2 = 6.50, P = 0. 039 ）. When comparing it to the A/A genotype, the risk of endometriosis was significantly modified for the G allele carriers with a adjusted odds ratio of 2.71 （95% CI： 1.19-6.16）. The frequency of the C and T allele among endometriosis patients and healthy controls were 88.8 % , 11.2 % and 91.9 % , 8.1% , respectively. No significant difference in MMP-9 allele distribution was shown between the cases and the controls（χ^2 = 1.64, P = 0.20） nor the significant difference of genotype distribution observed between endometriosis patients and healthy women（χ^2= 2.31, P = 0.32）. When comparing with the C/C genotype, the risk of endometriosis was not significantly modified for carriers of the T allele and the adjusted odds ratio was 1.41 （95 % CI：0.79-2.52）. Conclusion Individuals carrying MMP-7 G allele could significantly increase the risk of endometriosis but MMP-9 promoter SNP was not associated with the risk of endometriosis.

关 键 词：子宫内膜异位症 基质金属蛋白酶 基因多态性 遗传易感性 

分 类 号：R711.71[医药卫生—妇产科学]