Association of Estrogen Receptor Genes Polymorphisms With Polycystic Ovary Syndrome: A Systematic Review and Meta-Analysis Based on Observational Studies

Zhou, Siyu; Wen, Shu; Sheng, Yongcheng; Yang, Meng‐Yin; Shen, Xiaoyang; Chen, Yan; Kang, Deying; Xu, Liangzhi

doi:10.3389/fendo.2021.726184

Cited by 6 publications

(7 citation statements)

References 44 publications

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“…Whereas, another study on the PvuII and XbaI polymorphisms of ERα found no differences in the distribution of these polymorphisms in patients and healthy subjects; although these variants were associated with insulin resistance and FSH levels, which are indicative of their role as a genetic modifier of the disease [ 46 ]. A recent meta-analysis of studies involving 1522 PCOS patients and 4198 controls demonstrated no significant associations between the estrogen receptor gene variants including ESR1 rs2234693, ESR1 rs9340799 and ESR2 rs4936938 polymorphisms [ 47 ]. Our study on ESR1 PvuII-rs2234693 polymorphisms also did not show any significant association with the risk and susceptibility to PCOS disease.…”

Section: Discussionmentioning

confidence: 99%

Biochemical Characterization and Molecular Determination of Estrogen Receptor-α (ESR1 PvuII-rs2234693 T>C) and MiRNA-146a (rs2910164 C>G) Polymorphic Gene Variations and Their Association with the Risk of Polycystic Ovary Syndrome

Mir

Tayeb

Barnawi

et al. 2022

IJERPH

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Polycystic ovary syndrome (PCOS) is regarded as one of the most frequently encountered endocrine disorders and affects millions of young women worldwide, resulting in an array of complex metabolic alterations and reproductive failure. PCOS is a risk factor for diabetes mellitus, obstructive sleep apnea, obesity and depression in patients. Estrogen receptors (ESRs) are significant candidates in endocrine function and ovarian response in women. Moreover, microRNAs and long non-coding RNAs are emerging as principal mediators of gene expression and epigenetic pathways in various disease states. This study has characterized the clinical parameters in PCOS patients with comprehensive biochemical profiling compared to healthy controls and further examined the influence of allelic variations for estrogen receptor-α (ESR1 PvuII-rs2234693 T>C) and miRNA-146a (rs2910164 C>G) gene polymorphism on the risk of and susceptibility to PCOS. In this case-control study, we have used amplification refractory mutation specific (ARMS)-PCR to detect and determine the presence of these polymorphic variants in the study subjects. Our results demonstrated that most of the biochemical markers, which were analyzed in the study, show statistically significant alterations in PCOS patients, including fasting glucose, free insulin, HOMA-IR, LDL, HDL, cholesterol and hormones such as FSH, LH, testosterone and progesterone, which correlate with the established biochemical alterations in the disorder. Further, it is reported that for estrogen receptor-α (ESR1 PvuII-rs2234693 T>C), the frequency of the T allele (fT) was significantly higher among patients (0.64 vs. 0.44) compared to controls, while the frequency of the C allele (fC) was lower in patients (0.36 vs. 0.56) compared to controls. However, it was found that there was no association of an increased risk of PCOS with the ESR1 PvuII-rs2234693 C>T gene polymorphism. On the contrary, the study found strong association of miRNA-146a (rs2910164 C>G) gene polymorphism with an enhanced risk of PCOS. The frequency of the C allele (fC) was significantly higher among patients (0.52 vs. 0.36) compared to controls. The frequency of the G allele (fG) was found to be lower in patients (0.48 vs. 0.64) compared to controls. The codominant, dominant and recessive models display a statistically significant association of polymorphic variations with PCOS. Moreover, the G allele was associated strongly with PCOS susceptibility with an OR = 1.92 (95%) CI = (1.300–2.859), RR = 1.38 (1.130–1.691) p-value < 0.001.

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Section: Discussionmentioning

confidence: 99%

Biochemical Characterization and Molecular Determination of Estrogen Receptor-α (ESR1 PvuII-rs2234693 T>C) and MiRNA-146a (rs2910164 C>G) Polymorphic Gene Variations and Their Association with the Risk of Polycystic Ovary Syndrome

Mir

Tayeb

Barnawi

et al. 2022

IJERPH

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“…In this experiment, we found that BMP6 treatment significantly increased the mRNA expression of CYP11A1 and CYP19A1 and significantly decreased the mRNA expression of 3β-HSD and StAR , indicating that BMP6 promotes the secretion of E2 and P4 by increasing the expression of rate-limiting enzymes. In addition, E2 can stimulate the growth and development of follicles to maturity by binding to ESR1 on the cell membrane surface [ 48 ]. In this study, BMP6 could downregulate the mRNA expression of ESR1 , suggesting that BMP6 may be involved in blocking the development of follicles by inhibiting the sensitivity of granulosa cells to estrogen, thereby regulating ovarian reserve function.…”

Section: Discussionmentioning

confidence: 99%

BMP6 Promotes the Secretion of 17 Beta-Estradiol and Progesterone in Goat Ovarian Granulosa Cells

Song

Ding

Yao

et al. 2022

Animals

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The purpose of this study was to investigate the effects of BMP6 on the function of goat ovarian granulosa cells (GCs). The results showed that the exogenous addition of BMP6 did not affect the EdU-positive ratio of ovarian GCs and had no significant effect on the mRNA and protein expression levels of the proliferation-related gene PCNA (p > 0.05). Meanwhile, BMP6 had no significant effect on the cycle phase distribution of GCs but increased the mRNA expression of CDK4 (p < 0.05) and CCND1 (p < 0.01) and decreased the mRNA expression of CCNE1 (p < 0.01). Moreover, BMP6 had no significant effect on the apoptosis rate of GCs and did not affect the mRNA expression levels of apoptosis-related genes BAX, BCL2, and Caspase3 (p > 0.05). Importantly, BMP6 upregulated the secretion of 17 beta-estradiol (E2) and progesterone (P4) in ovarian GCs (p < 0.01). Further studies found that BMP6 inhibited the mRNA expression of 3β-HSD and steroid synthesis acute regulator (StAR) but significantly promoted the mRNA expression of the E2 synthesis rate-limiting enzyme CYP19A1 and the P4 synthesis rate-limiting enzyme CYP11A1 (p < 0.01). Taken together, these results showed that the exogenous addition of BMP6 did not affect the proliferation, cell cycle, and apoptosis of goat ovarian GCs but promoted the secretion of E2 and progesterone P4 in ovarian GCs by upregulating the mRNA expressions of CYP19A1 and CYP11A1.

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“…It was asserted in a study that PCOS caused by the aberrant expression of estrogen and ERs in the ovaries and uterus, and the therapeutic application of associated small-molecule targeted medications 3 . Another study evaluated the concern of ethnicity and presented the meta-analysis demonstrating non-significant (p>0.05) relationships between the ESR1 rs2234693, ESR1 rs9340799, and ESR2 rs4936938 variations and individual with PCOS susceptibility 19 .…”

Section: Discussionmentioning

confidence: 99%

“…The loss of ESR1 is linked to PCOS symptoms such as irregular menses, infertility, hyperandrogenism and hemorrhagic follicles generation. In addition, ESR2 nonappearance is associated with high early antral follicles and lowered corpora lutea, indicating a partial obstruction of follicular maturation and development 6 .…”

Section: Introductionmentioning

confidence: 99%

Association of Estrogen Receptors with Polycystic Ovary Syndrome and Subsequent Infertility in Affected Patients

Anjum¹,

Suhail²,

Zia³

et al. 2022

PJMHS

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Background: Polycystic ovarian syndrome (PCOS) is the reproductive and metabolic abnormality of females characterized by delayed folliculogenesis, hyperandrogenism, and multiple ovarian cysts, associated with an increased risk of infertility, abortion and endometrial cancer. Objectives: Therefore, the effects of estrogen receptors on PCOS incidence were investigated through quantification of ER-α and ER-β mRNAs expressions via RT-PCR. Study Design: This cross-sectional study was executed at Mayo Hospital Lahore, from January-2021 to September-2022, including 320 participants. Methods: 180 females enrolled in this study were diagnosed with PCOS. ER-α and ER-β were isolated and amplified separately on RT-PCR for their quantification. Results: It was found that expression of tER-α mRNA did not differ between size-matched normal and PCOS follicles, and the concentration of both types of nitrogenous bases, GC and TC, was equivalent. Yet, ER-β mRNA expression was substantially higher in TC (p<0.05) than in GC. Conclusion: It was concluded that PCOS is the major cause of infertility among Pakistani women. It is mostly curable if identified accurately. Established on ER and haplotype data, genetic coding for ER-α and ER-β mRNA are good markers for determination of the association of estrogen receptors with PCOS. Keywords: Endocrine disorder; Estrogen receptors; Genetic coding; Infertility.

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Association of Estrogen Receptor Genes Polymorphisms With Polycystic Ovary Syndrome: A Systematic Review and Meta-Analysis Based on Observational Studies

Cited by 6 publications

References 44 publications

Biochemical Characterization and Molecular Determination of Estrogen Receptor-α (ESR1 PvuII-rs2234693 T>C) and MiRNA-146a (rs2910164 C>G) Polymorphic Gene Variations and Their Association with the Risk of Polycystic Ovary Syndrome

Biochemical Characterization and Molecular Determination of Estrogen Receptor-α (ESR1 PvuII-rs2234693 T>C) and MiRNA-146a (rs2910164 C>G) Polymorphic Gene Variations and Their Association with the Risk of Polycystic Ovary Syndrome

BMP6 Promotes the Secretion of 17 Beta-Estradiol and Progesterone in Goat Ovarian Granulosa Cells

Association of Estrogen Receptors with Polycystic Ovary Syndrome and Subsequent Infertility in Affected Patients

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