1.Role and mechanism of ESR1 and PRKN gene methylation in the pathogenesis of polycystic ovary syndrome
Qirong WANG ; Zhifang ZAN ; Yu DUAN ; Kai YANG ; Jianbing LIU ; Genlai DU ; Li LI
Chinese Journal of Reproduction and Contraception 2023;43(10):1026-1031
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.
2.Role and mechanism of ESR1 and PRKN gene methylation in the pathogenesis of polycystic ovary syndrome
Qirong WANG ; Zhifang ZAN ; Yu DUAN ; Kai YANG ; Jianbing LIU ; Genlai DU ; Li LI
Chinese Journal of Reproduction and Contraception 2023;43(10):1026-1031
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.

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