Analysis of the association between the polymorphic variants of estrogen and progesterone receptor genes and genital endometriosis


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Abstract

Aim: To study association between the genetic polymorphism in the estrogen and progesterone receptor genes and genital endometriosis. Materials and methods: The study involved 894 women: 105 women with genital endometriosis and 789 women in the control group. The polymorphic loci of the estrogen and progesterone receptor genes were selected for the study: ESR1 c.453-397T>Crs2234693, ESR1 c.1029T>Crs3798577, ESR1c453-35M>Grs9340799, PGR c.38T>C rs484389, PGR c.1415-11113G>T rs1042838. CFX96 Touch Real-Time PCR System was used for analysis. To calculate the associations, the odds ratio (OR) and 95% confidence interval (CI) was used. Results: The associations between molecular genetic markers ESR1 c.453-397T>C rs2234693, ESR1 c.1029T>C rs3798577, ESR1c.453-351A>G rs9340799 and development of genital endometriosis were found. A combination of ESR1A rs9340799, ESR1 T rs2234693 and ESR1 T rs3798577alleles (OR=1.86, p=0.003) were found to be a risk factor for the development of genital endometriosis, and a combination of ESR1 rs9340799 G alleles and ESR1 rs3798577 CC genotype (OR=0.33, p=0.003) appeared to prevent the development of the disease. No associations between polymorphic loci of PGR c.38T>C rs484389 and PGR c.1415-11113G>T rs1042838 and genital endometriosis were found. Conclusion: Polymorphic loci of ESR1 c.453-397T>C rs2234693, ESR1 c.1029T>C rs3798577, ESR1c.453-351A>G rs9340799 were associated with development of genital endometriosis.

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About the authors

Oksana B. Altukhova

Belgorod State National Research University

Email: kristalinka@yandex.ru
MD, Associate Professor, Department of Obstetrics and Gynecology of the Medical Institute 308015, Russia, Belgorod, Pobedy str., 85

Viktor E. Radzinsky

Peoples' Friendship University of Russia

Email: radzinskiy-ve@rudn.ru
MD, Professor, Honored Scientist of the Russian Federation, Academician of the International Academy of Sciences of the Higher School, Head of the Department of Obstetrics and Gynecology, Faculty of Medicine 117198, Russia, Moscow, Miklukho-Maklaya str., 6

Svetlana S. Sirotina

Belgorod State National Research University

Email: sirotina@bsu.eduru
PhD (Bio), Associate Professor, Department of Biomedical Disciplines of the Medical Institute 308015, Russia, Belgorod, Pobedy str., 85

Mikhail I. Churnosov

Belgorod State National Research University

Email: churnosov@bsu.edu ru
MD, Professor, Head of the Department of Biomedical Disciplines of the Medical Institute 308015, Russia, Belgorod, Pobedy str., 85

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