MMP12、MMP13基因启动子区多态性与子宫内膜异位症遗传易感性研究

The functional polymorphisms on promoter region of matrix metalloproteinase-12,-13 genes with genetic susceptibility to endometriosis

目的探讨MMP12、MMP13启动子区基因多态性与安徽地区育龄妇女的子宫内膜异位症(EMs)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方法(PCR-RFLP)对221例EMs及235例对照组MMP12 A-82G、MMP-13 A-77G基因多态位点的基因型分析。结果 MMP12、MMP13各个基因型及等位基因频率在对照组和病例组的分布比较差异无统计学意义。结论 MMP12、MMP13启动子区A-82G、A-77G多态性与EMs无明显相关性,MMP12、MMP13启动子区的多态位点可能和安徽地区育龄妇女EMs的易感性无关。

Objective To identify the genetic susceptibility of the function polymorphisms on region of matrix metalloproteinase（MMP）-12,-13 gene responsible to endometriosis（EMs） in Anhui region of women.Methods The study cohort included 221 patients diagnosed with EMs.Control group consisted of 235 healthy women without EMs.Genotyping of the MMP-12、MMP-13 gene polymorphisms 82A/G and 77A/G were performed by polymerase chain reaction（PCR） and restriction fragment length polymorphism（RFLP） analysis.Results The genotype and allele frequencies of two loci were no significant difference between cases and controls.Conclusion The study results suggest that the functional polymorphism on promoter region MMP-12,MMP-13 gene may be not associated with the risk of EMs in the Anhui region of women.