摘要
目的探讨ESR1和PRKN基因甲基化水平与多囊卵巢综合征(polycystic ovary syndrome,PCOS)发生的关系及其机制。方法采用病例对照研究,选取2021年1月至2021年6月期间在山西医科大学第一医院生殖医学科就诊的60例PCOS患者(PCOS组)及40例正常育龄妇女(对照组)为研究对象,提取全血DNA及总RNA,采用甲基化特异性聚合酶链反应(methylation specific polymerase chain reaction,MS-PCR)技术检测研究对象外周血ESR1和PRKN基因启动子区的甲基化状态,并采用实时荧光定量PCR检测ESR1和PRKN基因mRNA表达水平,分析ESR1和PRKN基因启动子区甲基化状态和mRNA表达水平与PCOS发生的关系。结果 PCOS组患者外周血ESR1基因启动子区甲基化水平[56.7%(34/60)]显著低于对照组[77.5%(31/40),P=0.035];PRKN基因启动子区甲基化水平[76.7%(46/60)]显著高于对照组[52.5%(21/40),P=0.012]。PCOS组患者外周血ESR1 mRNA表达水平(1.30±0.93)显著高于对照组(0.97±0.50,P=0.034);PCOS组患者的PRKN mRNA表达水平(1.06±0.83)与对照组相比差异无统计学意义(1.15±1.01,P>0.05)。结论 PCOS患者ESR1和PRKN基因甲基化水平改变导致其表达水平改变,进而在PCOS的发生中发挥了重要作用。
Objective To investigate the relationship between methylation levels of ESR1,PRKN genes and the occurrence of polycystic ovary syndrome(PCOS).Methods In a case-control study,60 patients with PCOS(PCOS group)and 40 women of normal reproductive age(control group)attending the Department of Reproductive Medicine,the First Hospital of Shanxi Medical University from January 2021 to June 2021 were enrolled.The peripheral blood DNA and total RNA were extracted,and the methylation specific polymerase chain reaction(MS-PCR)technique was used to detect the methylation status of ESR1 and PRKN genes promoter regions.The mRNA expression levels of ESR1 and PRKN genes were measured by real-time quantitative PCR.The relationship between the methylation status,mRNA expression levels of these two genes and the occurrence of PCOS were analyzed.Results The methylation level of ESR1 gene in PCOS patients[56.7%(34/60)]was significantly lower than that in control group[77.5%(31/40),P=0.035];while the methylation level of PRKN gene in PCOS patients[76.7%(46/60)]was significantly higher than that in control group[52.5%(21/40),P=0.012].The expression level of ESR1 mRNA in PCOS patients(1.30±0.93)was significantly higher than that in control group(0.97±0.50,P=0.034);while there was no difference of PRKN expression level between PCOS(1.06±0.83)and control groups(1.15±1.01,P>0.05).Conclusion The methylation levels in the promoter regions of ESR1 and PRKN genes lead to the changes of the mRNA expression levels,which in turn play an important role in the occurrence of PCOS.
作者
王淇蓉
昝志芳
段毓
杨恺
刘建兵
杜根来
李莉
Wang Qirong;Zan Zhifang;Duan Yu;Yang Kai;Liu Jianbing;Du Genlai;Li Li(Department of Reproductive Medicine,the First Hospital of Shanxi Medical University,Taiyuan 030001,China;School of Basic Medical Sciences,Shanxi Medical University,Taiyuan 030001,China)
出处
《中华生殖与避孕杂志》
CAS
CSCD
北大核心
2023年第10期1026-1031,共6页
Chinese Journal of Reproduction and Contraception
基金
国家自然科学基金青年项目(12102238)
山西省回国留学人员科研资助项目(2020-076)
山西省自然科学基金(自由探索类)面上项目(20210302123307)。
