Association of ESR2 rs4986938 polymorphism with the development of endometrial hyperplasia


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Abstract

Objective: to study associations of ESR1 rs3020394 and rs1884051 and ESR2 rs4986938polymorphisms with the development of endometrial hyperplasia. Subjects and methods. The study included 1501 women: 520patients with simple endometrial hyperplasia and 981 control-group individuals. ESR1 rs3020394 and rs1884051 and ESR2 rs4986938polymorphisms 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-61, Pax-81, 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.

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About the authors

Irina V. Ponomarenko

Belgorod State National Research University

Email: ponomarenko_i@bsu.edu.ru
MD, associate professor, Department of Biomedical Disciplines of the Medical Institute

Alexey V. Polonikov

Kursk State Medical University

Email: polonikovav@kursksmu.net
MD, professor, head of the Department of Biology, Medical Genetics and Ecology

Mikhail I. Churnosov

Belgorod State National Research University

MD, professor, head of the Department of Biomedical Disciplines Medical Faculty

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