ER、MMP-1的基因多态性与子宫肌瘤相关性研究

Study on the correlation between gene polymorphisms of ER,MMP-1 with the pathogenesis of uterine leiomyoma

目的:探讨雌激素受体(ER)、基质金属蛋白酶1(MMP-1)的基因多态性与子宫肌瘤发病的关系。方法:标本采自于2013年6月~2014年8月因"子宫肌瘤"于吉林大学第二医院妇产科手术治疗的患者200例,均长期居住在东北地区,均在患者知情同意下采集标本。试验组为子宫肌瘤组(200例),对照组为瘤旁正常子宫肌组织组(200例)。采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术分别检测易感基因ER(rs2234693、rs9340799)、MMP-1(rs494379)单核苷酸的多态性(SNPs)。结果:与对照组相比,试验组ER rs2234693(C>T)、MMP-1 rs494379(A>G)、两个位点均发生突变,差异有统计学意义(P<0.05),而试验组ER rs9340799(A/G)未发现突变,差异无统计学意义(P>0.05)。结论:ER rs2234693与MMP-1 rs494379两个位点基因多态性可能是东北地区子宫肌瘤的易感因素,与其发病相关。而ER rs9340799的基因多态性与东北地区子宫肌瘤发病风险无关。

Objective To investigate the expression of estrogen receptor（ ER）,matrix metalloproteinase 1（ MMP-1） of uterine leiomyomas correlation between genetic polymorphisms. Method Specimens were collected from June 2013 to August 2014 due to ＂uterine fibroids＂in the Second Hospital of Jilin University,200 cases of surgical treatment of gynecology and obstetrics. All paients were living in the northeastern part of China for a long time. All patients were collected with informed consent. The experimental group was 200 cases of uterine leiomyoma group and the control group was normal uterine muscle group（ 200 cases）. Using polymerase chain reaction restriction fragment length polymorphism（ PCR-RFLP） technique,the susceptible gene of ER detection（ rs2234693,rs 9340799）,MMP-1（ rs494379） single nucleotide polymorphism（ SNPs）. Results Compared with the control group,experimental group ER rs2234693（ C〉T）,MMP-1 rs494379（ A〉G） two loci mutation,the difference was statistically significant（ P〈0. 05）,the experimental group ER rs9340799（ A/G） no mutation,the difference was not statistically significant（ P〉0. 05）. Conclusion ER rs9340799 no mutation,illustrate the onset of uterine leiomyoma crowd gene polymorphism may be associated with the northeast area of the two independent; ER rs2234693,MMP-1 rs494379 two site mutations,that incidence of uterine leiomyoma gene polymorphism may be associated with the northeast area the 2 sites of the associated.