Estrogen Receptor Alpha (ERα) Pvu II 397 T/C Related Genotypes and Alleles are Associated with Higher Susceptibilities of Endometriosis

In: Journal of Physics: Conference Series · 2020 · vol. 1485(1) , pp. 012011 · doi:10.1088/1742-6596/1485/1/012011 · W3025998772
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This study found that specific ERα 397 T/C genotypes and alleles are significantly correlated with an increased susceptibility to endometriosis in women.

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This study investigated the association between estrogen receptor alpha (ERα) Pvu II 397 T/C polymorphisms and endometriosis risk by comparing genotype frequencies in patients with the condition against healthy controls. Using PCR-RFLP analysis on seventy participants, researchers found significantly higher frequencies of the C allele and specific genotypes in the endometriosis group compared to the control group. The results indicated a statistically significant correlation between these genetic variations and susceptibility to the disease, supporting the role of ERα signaling in its pathogenesis. This paper is centrally about endometriosis — specifically examining genetic susceptibility factors related to estrogen receptor polymorphisms.

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Abstract

Abstract Endometriosis is an estrogen dependent disease that is proved by its development in reproductive age and the decrease after menopause or ovariectomy. Endometriosis characterized by the growth of endometrial outside the uterine cavity, which is found in women with subfertility and pelvic pain problems. Effect of the estrogen hormone depends on the binding to its receptor. Estrogen receptor alpha (ERα) polymorphisms which admit by Pvu II enzyme restriction has associate to some women’s disease like endometriosis. This Study aimed to determine the correlation between ERα 397 T/C with the risk of endometriosis. There were 70 samples which were divided into 2 groups: 35 cases (endometriosis group) and 35 controls (non-endometriosis group). The determination of genotypes and allotypes used PCR-RFLP method and the data analysis by chi square test α<0,05.The results showed that genotype frequencies of case group are 11,4% TT, 54,3% TC and 12% CC while genotype of control group are 34,3% TT, 51,4% TC and 14,3% CC with p value 0,032. Allele frequencies of case group are 38,6% T and 61,4% C while control group are 60% T and 40% C with p value 0,011. Conclusion: there is a significant correlation between the genotype and allele polymorphism of ERα gene 397 T/C with the risk of endometriosis.
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Abstract Endometriosis is an estrogen dependent disease that is proved by its development in reproductive age and the decrease after menopause or ovariectomy. Endometriosis characterized by the growth of endometrial outside the uterine cavity, which is found in women with subfertility and pelvic pain problems. Effect of the estrogen hormone depends on the binding to its receptor. Estrogen receptor alpha (ERα) polymorphisms which admit by Pvu II enzyme restriction has associate to some women’s disease like endometriosis. This Study aimed to determine the correlation between ERα 397 T/C with the risk of endometriosis. There were 70 samples which were divided into 2 groups: 35 cases (endometriosis group) and 35 controls (non-endometriosis group). The determination of genotypes and allotypes used PCR-RFLP method and the data analysis by chi square test α<0,05.The results showed that genotype frequencies of case group are 11,4% TT, 54,3% TC and 12% CC while genotype of control group are 34,3% TT, 51,4% TC and 14,3% CC with p value 0,032. Allele frequencies of case group are 38,6% T and 61,4% C while control group are 60% T and 40% C with p value 0,011. Conclusion: there is a significant correlation between the genotype and allele polymorphism of ERα gene 397 T/C with the risk of endometriosis. Content from this work may be used under the terms of the Creative Commons Attribution 3.0 licence. Any further distribution of this work must maintain attribution to the author(s) and the title of the work, journal citation and DOI.

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endometriosis

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