MMP-9基因启动子单核苷酸多态性与子宫内膜异位症遗传易感性的关系

目的探讨MMP-9基因启动子区的单核苷酸多态性与子宫内膜异位症遗传易感性的关系。方法采用蛋白酶K消化-饱和酚氯仿法提取外周血白细胞DNA、聚合酶链反应-限制性片段长度多态分析(PCR-RFLP)分别对120例子宫内膜异位症和240例对照组进行基因分型和序列测定。结果病例组MMP-9-1562CC、CT和TT基因型频率分别为81.7%、17.5%和0.8%,对照组分别为75.8%、23.3%和0.8%,两组无统计学差异(P=0.44)。两组CC及CT+TT基因型频率差异也无统计学差异。非条件Logistic回归分析结果显示,携带T等位基因者发生子宫内膜异位症风险是对照组的0.70倍(95%CI=0.40~1.22)。结论MMP-9-1562C>T遗传变异可能与子宫内膜异位症的发病无关。

Polymorphisms in MMP-9 gene promoter and genetic predisposition of endometriosis

Obejective:To explore SNPs in the MMP-9 promoter and evaluate its effects on risk of developing endometriosis.Methods:The genomic DNA of each subject was extracted from peripheral blood leucocyte by using proteinase K digestion followed by saturated hydroxybenzene/ chloroform procedure.Genotypes of MMP-9-1562 of all subjects were determined by polymerase chain reaction-based restriction fragment length polymorphism (PCR-RFLP).Results:The frequencies of 1562 CC,CT and TT genotype of MMP-9 promoter were 81.7%,17.5% and 0.8% respectively in 120 patients with endometriosis,and 75.8%,23.3% and 0.8% in 240 controls.There were no significant difference between cases and controls.The relative risk of developing endometriosis was 0.70 (95% CI=0.40～1.22) in the individual for-1562T containing haplotype.Conclusion:The variance of MMP-9-1562C>T may not be associated with endometriosis.