Association of ESR2 rs4986938 polymorphism with the development of endometrial hyperplasia
Objective: to study associations of ESR1 rs3020394 and rs1884051 and ESR2 rs4986938 polymorphisms with the development of endometrial hyperplasia.Ponomarenko I.V., Polonikov A.V., Churnosov M.I.
Subjects and methods. The study included 1501 women: 520 patients with simple endometrial hyperplasia and 981 control-group individuals. ESR1 rs3020394 and rs1884051 and ESR2 rs4986938 polymorphisms were genotyped.
Results. ESR2 rs4986938 polymorphism was established to be associated with the development of endometrial hyperplasia. The A/A genotype is a risk factor for the development of the disease (OR = 1.43). ESR2 rs4986938 polymorphism had substantial regulatory effects (it was located in the region of histones that marked enhancers in 17 different organs and tissues, at the DNase I hypersensitive sites in 6 tissues, in the DNA regulatory motif regions that were binding sites of 5 transcriptional factors (CTCF_known1, Nr2f2, Pax-6_1, Pax-8_1, and RAR) and affected the expression of the ESR2, SYNE2, and MTHFD1 genes.
Conclusion. ESR2 rs4986938 polymorphism is associated with the development of endometrial hyperplasia.
Keywords
endometrial hyperplasia
polymorphism
References
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Received 08.06.2018
Accepted 22.06.2018
About the Authors
Ponomarenko, Irina V., MD, associate professor, Department of Biomedical Disciplines of the Medical Institute, Belgorod State National Research University.308015, Russia, Belgorod, Pobedy str. 85. Tel.: +74722301383. E-mail: ponomarenko_i@bsu.edu.ru. https://orcid.org/0000-0002-5652-0166.
Polonikov, Alexey V., MD, professor, head of the Department of Biology, Medical Genetics and Ecology, Kursk State Medical University,
Ministry of Health of Russia of the Ministry of Health of Russia. 305041, Russia, Kursk, K. Marx str. 3. Tel.: +74712588147. E-mail: polonikovav@kursksmu.net.
Churnosov, Mikhail I., MD, professor, head of the Department of Biomedical Disciplines Medical Faculty, Belgorod State National Research University.
308015, Russia, Belgorod, Pobedy str. 85. Tel.: +74722301383. E-mail: churnosov@bsu.edu.ru. http://orcid.org/0000-0003- 1254-6134
For citation: Ponomarenko I.V., Polonikov A.V., Churnosov M.I. Association of ESR2 rs4986938 polymorphism with the development of endometrial hyperplasia. Akusherstvo i Ginekologiya/Obstetrics and Gynecology.2019; (4): 66-72. (in Russian)
https://dx.doi.org/10.18565/aig.2019.4.66-72