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

References

  1. Киселев В.И., Сидорова И.С., Унанян А.Л.,Муйжнек Е.Л. Гиперпластические процессы органов женской репродуктивной системы: теория и практика. М.: МЕДПРАКТИКА-М; 2010. 468с.
  2. Адамян Л.В., ред. Сочетанные доброкачественные опухоли и гиперпластические процессы матки (миома, аденомиоз, гиперплазия эндометрия). Проект клинических рекомендаций по ведению больных. Адамян Л.В., Андреева Е.Н., Аполихина И.А., Балан В.Е., Беженарь В.Ф., Геворкян М.А. и др. М.: Изд-во Научного центра акушерства, гинекологии и перинатологии им. В. И. Кулакова; 2015. 92с.
  3. Chandra V., Kim J.J., Benbrook D.M., Dwivedi A., Rai R. Therapeutic options for management of endometrial hyperplasia. Journal of Gynecologic Oncology. 2016;27(1):e8. doi: 10.3802/jgo.2016.27.e8.
  4. Kadirogullari P., Atalay C.R., Ozdemir O., Erkan M. Sari Prevalence of Co-existing Endometrial Carcinoma in Patients with Preoperative Diagnosis of Endometrial Hyperplasia. J. Clin. Diagn. Res. 2015;9(10):QC10-QC14.
  5. rbo A., Arnes M., Vereide A., Straume B. Relapse risk of endometrial hyperplasia after treatment with the levonorgestrel-impregnated intrauterine system or oral progestogens. Bjog. 2016;123(9):1512-1519. doi: 10.1111/1471-0528.13763.
  6. Чернуха Г.Е., Асатурова А.В., Иванов И.А., Думановская М.Р. Структура патологии эндометрия в различные возрастные периоды. Акушерство и гинекология. 2018; 8: 129-34. https://dx.doi.org/10.18565/aig.2018.8.129-134.
  7. Пономаренко И.В., Полоников А.В., Чурносов М.И. Гиперпластические процессы эндометрия: этиопатогенез, факторы риска, полиморфизм генов-кандидатов. Акушерство и гинекология. 2019; 1: 13-18.
  8. Рудых Н.А., Сиротина С.С. Генетические соотношения русских и украинских популяций Белгородской области. Научный результат. Медицина и фармация. 2015;1(3):72-79. [Rudyh N.A., Sirotina S.S. Genetic interrelations of Russian and Ukrainian populations of Belgorod region]. Research Result. Medicine and Pharmacy. 2015;1(3):72-79. (in Russian)]. doi: 10.18413/23138955-2015-1-3-72-79
  9. Пономаренко И.В. Отбор полиморфных локусов для анализа ассоциаций при генетико-эпидемиологических исследованиях. Научный результат. Медицина и фармация. 2018;4(2):40-54. doi: 10.18413/2313-8955-2018-4-2-0-5
  10. Ward L.D., Kellis M. HaploReg v4: systematic mining of putative causal variants, cell types, regulators and target genes for human complex traits and disease. Nucleic Acids Res. 2016;44:877-881.
  11. Пономаренко И.В., Решетников Е.А., Полоников А.В., Чурносов М.И. Полиморфный локус rs314276 гена LIN28B ассоциирован с возрастом менархе у женщин Центрального Черноземья России. Акушерство и гинекология. 2019; 2: 98-104.
  12. Пономаренко И.В., Полоников А.В., Чурносов М.И. Полиморфные локусы гена LHCGR ассоциированы с развитием лейомиомы матки. Акушерство и гинекология. 2018; 10: 86-91.
  13. Ong C.-T., Corces V.G. CTCF: An Architectural Protein Bridging Genome Topology and Function. Nature reviews Genetics. 2014;15(4):234-246. doi: 10.1038/nrg3663.
  14. Tang Z., Luo O.J., Li X., Zheng M., Zhu J.J., Szalaj P., et al. CTCF-Mediated Human 3D Genome Architecture Reveals Chromatin Topology for Transcription. Cell. 2015; 163 (7): 1611 - 1627. doi.org/10.1016/ j.cell.2015.11.024.
  15. Фархат К.Н., Савилова А.М., Макиян З.Н., Адамян Л.В. Эндометриоз: роль стволовых клеток в развитии заболевания (обзор литературы). Проблемы репродукции. 2016; 22(1): 20-27.
  16. Baranov V.S., Ivaschenko T.E., Yarmolinskaya M.I. Comparative system genetics view of endometriosis and uterine leiomyoma: Two sides of the same coin? Systems Biology in Reproductive Medicine. 2016;62(2):93-105.
  17. The GTEx Consortium. Genetic effects on gene expression across human tissues. Nature. 2017;550: 204-213.
  18. Stavrou I., Zois C., Chatzikyriakidou A., Georgiou I., Tsatsoulis A. Combined estrogen receptor a and estrogen receptor в genotypes influence the age of menarche. Hum. Reprod. 2006;21:554-557.
  19. Eren E., Koca B., Ture M., Guzel B. Epicardial Adiposity in Children with Obesity and Metabolic Syndrome. Iranian Journal of Pediatrics. 2014;24(4):411-417. endometriosis highlighting key genes involved in hormone metabolism. Nature Communications. 2017;8:15539. doi: 10.1038/ncomms15539.
  20. Silva R.C., Costa I.R., Bordin B.M., Silva C.T., Souza S.R., Jiinior C.L., et al. RsaI polymorphism of the ERP gene in women with endometriosis. Genet Mol Res. 2011;10:465-470. doi: 10.4238/vol10-1gmr940.
  21. Демакова Н.А. Молекулярно-генетические характеристики пациенток с гиперплазией и полипами эндометрия. Научный результат. Медицина и фармация. 2018; 4(2):26-39. [Demakova N.A. Molecular and genetic characteristics of patients with hyperplasia and endometric polyps. Research Result. Medicine and Pharmacy. 2018;4(2):26-39. (in Russian)]. doi: 10.18413/2313-8955-2018-4-2-0-4
  22. Zulli K., Bianco B., Mafra F.A., Teles J.S., Christofolini D.M., Barbosa C.P Polymorphism of the estrogen receptor в gene is related to infertility and infertility-associated endometriosis. Arq Bras Endocrinol Metabol. 2010;54(6):567- 571.
  23. Радзинский В.Е., Алтухова О.Б. Молекулярно-генетические детерминанты бесплодия при генитальном эндометриозе. Научные результаты биомедицинских исследований. 2018; 4(3):21-30. [Radzinsky V.E., Altuchova O.B. Molecular-genetic determinants of infertility in genital endometryosis. Research Results in Biomedicine. 2018;4(3):21-30. (in Russian)]. doi: 10.18413/23138955-2018-4-3-0-3
  24. Шрамко С.В., Гуляева Л.Ф., Баженова Л.Г., Левченко В.Г. Миома матки и аденомиоз: молекулярная характеристика по экспрессии генов стероидных рецепторов. Акушерство и гинекология. 2018; 4: 58-63. [Shramko S.V., Gulyaeva L.F., Bazhenova L.G., Levchenko V.G. Uterine fibroids and adenomyosis: a molecular characterization of the expression of steroid receptor genes. Akusherstvo i Ginekologiya/Obstetrics and Gynecology. 2018; 4: 58-63. (in Russian)]. https://dx.doi.org/10.18565/aig.2018.4.58-63
  25. Sapkota Y., Steinthorsdottir V., Morris A.P., Fassbender A., Rahmioglu N., De Vivo I., et al. Meta-analysis identifies five novel loci associated with
  26. Ducker G.S., Rabinowitz J.D. One-Carbon Metabolism in Health and Disease. Cell metabolism. 2017;25(1):27-42. doi: 10.1016/j.cmet.2016.08.009.

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