About the author: |
A. G. Kornatska, М. А. Flaksemberg, G. V. Chubei, О. V. Trokhymovych, L. Ye. Fishchuk, N. L. Medvedieva, Z. I. Rossokha |
Heading |
CLINICAL MEDICINE |
Type of article |
Scentific article |
Annotation |
The purpose of this study was to investigate the effect of ESR1, PGR genes variants and hypermethylation of promoter region of the ESR1 gene on the risk of uterine leiomyoma in women. The risk of disease development was associated with ESR1 genes variants, and in the presence of 397CC genotype of the ESR1 gene were observed significantly larger size of the dominant node and early onset of the disease in patients. PGR gene variant modified the risk of uterine leiomyoma development. The T1/T2 heterozygous variant of the gene was associated with a reduced risk of uterine leiomyoma development in women. In the presence of the T1/T1 gene variant, the risk of uterine leiomyoma development was significantly 2.5-time increased, and was significantly 4-time increased for patients with this genotype in combination with 351AA genotype of the ESR1 gene. Hypermethylation of the ESR1 gene promoter region was an additional risk factor for uterine leiomyoma development and was detected in patients with unsuccess treatments response. |
Tags |
genetic risk, ESR1, PGR, methylation, uterine leiomyoma |
Bibliography |
- Albalawi IA, Mir R, Abu-Duhier FM. Utility of amplification-refractory mutation system for the detection clinically significant estrogen and progesterone receptors gene variations in breast cancer patients in Saudi Arabia. IAJPS. 2019; 6(2):4734–47. doi:10.5281/ZENODO.2582886.
- Anousha N, Hossein-Nezhad A, Biramijamal F, Rahmani A, Maghbooli Z, Aghababaei E, et al. Association study of estrogen receptor alpha gene polymorphisms with spontaneous abortion: Is this a possible reason for unexplained spontaneous abortion? Biomed Res Int. 2013;2013:256470. doi:10.1155/2013/256470.
- Boclin Kde L, Faerstein E. Prevalence of self-reported medical diagnosis of uterine leiomyomas in a Brazilian population: demographic and socioeconomic patterns in the Pro-Saúde Study. Rev Bras Epidemiol. 2013 Jun;16(2):301–13. English, Portuguese. doi:10.1590/S1415-790X2013000200007.
- Ciebiera M, Wrzosek M, Wojtyła C, Łoziński T, Nowicka G, Jakiel G, et al. Oestrogen receptor alpha PvuII polymorphism and uterine fibroid incidence in Caucasian women. Prz Menopauzalny. 2018 Dec;17(4):149–154. doi:10.5114/pm.2018.81735.
- Da Silva F, Pabalan N, Ekaratcharoenchai N, Serpa Neto A, Christofolini DM, de Oliveira R, Bianco B, Barbosa CP. PROGINS polymorphism of the progesterone receptor gene and the susceptibility to uterine leiomyomas: a systematic review and meta-analysis. Genet Test Mol Biomarkers. 2018 May; 22(5):295–301. doi:10.1089/gtmb.2017.0233.
- Fan XP, Dou CY, Fan YC, Cao CJ, Zhao ZH, Wang K. Methylation status of the estrogen receptor 1 promoter predicts poor prognosis of acute-on-chronic hepatitis B liver failure. Rev Esp Enferm Dig. 2017 Dec;109(12):818–827. doi:10.17235/reed.2017.4426/2016.
- Feng Y, Lin X, Zhou S, Xu N, Yi T, Zhao X. The associations between the polymorphisms of the ER-α gene and the risk of uterine leiomyoma (ULM). Tumour Biol. 2013 Oct;34(5):3077–82. doi:10.1007/s13277-013-0874-0.
- Hofmeister BT, Lee K, Rohr NA, Hall DW, Schmitz RJ. Stable inheritance of DNA methylation allows creation of epigenotype maps and the study of epiallele inheritance patterns in the absence of genetic variation. Genome Biol. 2017 Aug 16;18(1):155. doi:10.1186/s13059-017-1288-x.
- Kim JJ, Sefton EC. The role of progesterone signaling in the pathogenesis of uterine leiomyoma. Mol Cell Endocrinol. 2012 Jul 25;358(2):223–31. doi:10.1016/j.mce.2011.05.044.
- Li M, Schifanella L, Larsen PA. Alu retrotransposons and COVID-19 susceptibility and morbidity. Hum Genomics. 2021 Jan 4;15(1):2. doi: 10.1186/s40246-020-00299-9.
- Liu X, Huang J, Lin H, Xiong L, Ma Y, Lao H. ESR1 PvuII (rs2234693 T>C) polymorphism and cancer susceptibility: Evidence from 80 studies. J Cancer. 2018 Jul 30;9(16):2963–2972. doi: 10.7150/jca.25638.
- Omar M, Laknaur A, Al-Hendy A, Yang Q. Myometrial progesterone hyper-responsiveness associated with increased risk of human uterine fibroids. BMC Womens Health. 2019 Jul 9;19(1):92. doi:10.1186/s12905-019-0795-1.
- Pakharenko LV. Evaluation of progesterone and progesterone receptor gene PROGINS polymorphism in the development of some forms of premenstrual syndrome. Reproductive health of woman. 2020;1(41):10–4. doi:10.30841/2708-8731.1.2020.471241.
- Paliychuk OV, Polishchuk, LZ, Rossokha ZI, Chekhun VF. Molecular-genetic models for prognosis of development of tumors of reproductive system in women with family history of cancer. Exp Oncol. 2018 Mar;40(1):59–67. doi:10.31768/2312-8852.2018.40(1):59-67.
- Tsuboi K, Nagatomo T, Gohno T, Higuchi T, Sasaki S, Fujiki N, et al. Single CpG site methylation controls estrogen receptor gene transcription and correlates with hormone therapy resistance. J Steroid Biochem Mol Biol. 2017 Jul;171:209–217. doi: 10.1016/j.jsbmb.2017.04.001.
|
Publication of the article |
«World of Medicine and Biology» №2(76), 2021 year, 058-063 pages, index UDK 575.191:618.14-006.363.03-056.7-092.12 |
DOI |
10.26724/2079-8334-2021-2-76-58-63 |