Investigation of Estrogen (ESR) Receptor Gene Polymorphism in Multiple Sclerosis (MS) Disease

  • Arash Mosarrezaii Department of Neurology, Imam Khomeini Hospital, Urmia University of Medical Sciences, Urmia
  • Peyvand Mohammadi Urmia University of Medical Sciences, Urmia
  • Sayyedeh Farimah Elyasi Urmia University of Medical Sciences, Urmia, Iran
Keywords: Multiple sclerosis, estrogen receptor, polymorphism, PCR-RFLP

Abstract

MS is the disease of the central nervous system in which myelin sheath of the optic nerves is degraded. According to the role of estrogen in the embryonic distinctions and that the estrogen is a female sex hormone and considering the high prevalence of MS in women and in regard of the fact that the sex hormones carry out their effects using their own specific receptors, the present study aims at determining the role of estrogen receptor gene in patients with MS in Azerbaijan-e-Gharbi Province and comparing the gen in both the patients and the healthy individuals so as to make it clear what role do estrogen and its receptor genes play in MS disease.
The present study is a case-control study that was conducted on MS patients who had referred to Orumia’s Imam Khomeini (may Allah consecrate the soil of his tomb) Hospital. The study sample volume was consisted of two groups: one group comprised of 30 women with MS and another group composed of 30 healthy women who had been randomly assigned to these groups. Blood samples, 2cc, were taken from all the patients following which the DNAs of the patients were extracted and the estrogen hormone receptor gene, named ESR1, was subjected to examination based on RFLP method. Next, the information was analyzed using SPSS software, version 21.
In patients with MS, eight cases (26.7%) had homozygous gene, five cases (16.6%) had heterozygous gene and 17 cases (56.7%) had healthy gene; in the healthy individuals of the control group, zero cases had homozygous gene, 3 cases (10%) had heterozygous gene and 27 cases (90%) had healthy genes.
The genotypic and allelic frequencies of Era rs2234693 (C/T) polymorphism shows a significant difference between the patient and control groups.

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Author Biographies

Arash Mosarrezaii, Department of Neurology, Imam Khomeini Hospital, Urmia University of Medical Sciences, Urmia

Department of Neurology, Imam Khomeini Hospital, Urmia University of Medical Sciences, Urmia

Peyvand Mohammadi, Urmia University of Medical Sciences, Urmia

Urmia University of Medical Sciences, Urmia

Sayyedeh Farimah Elyasi, Urmia University of Medical Sciences, Urmia, Iran

MD, Urmia University of Medical Sciences, Urmia, Iran

References

Abbasi, S., Nouri, M., & Azimi, C. (2012). Estrogen receptor genes variations and breast cancer risk in Iran. International journal of clinical and experimental medicine, 5(4), 332.

Christianson, M. S., Mensah, V. A., & Shen, W. (2015). Multiple sclerosis at menopause: Potential neuroprotective effects of estrogen. Maturitas, 80(2), 133-139.

Haldane, J. (2012). Sex Hormone Treatments for Multiple Sclerosis. Journal of Orthomolecular Medicine, 27(2).

Hauser, S. L. (1994). Multiple sclerosis and other demyelinating diseases. Harrison's principles of internal medicine, 2287.

Hedström, A. K., Alfredsson, L., & Olsson, T. (2016). Environmental factors and their interactions with risk genotypes in MS susceptibility. Current opinion in neurology, 29(3), 293-298.

Herynk, M. H., & Fuqua, S. A. (2004). Estrogen receptor mutations in human disease. Endocrine reviews, 25(6), 869-898.

Jones, R. E., Kaler, L., Murphy, S., & Offner, H. (2008). Tissue-Dependent Expression of Estrogen Receptor in 17-Estradiol-Mediated Attenuation of Autoimmune CNS Inflammation.

Khalaj, A. J., Yoon, J., Nakai, J., Winchester, Z., Moore, S. M., Yoo, T., ... & Tiwari-Woodruff, S. K. (2013). Estrogen receptor (ER) β expression in oligodendrocytes is required for attenuation of clinical disease by an ERβ ligand. Proceedings of the National Academy of Sciences, 110(47), 19125-19130.

Kikuchi, S., Fukazawa, T., Niino, M., Yabe, I., Miyagishi, R., Hamada, T., & Tashiro, K. (2002). Estrogen receptor gene polymorphism and multiple sclerosis in Japanese patients: interaction with HLA-DRB1* 1501 and disease modulation. Journal of neuroimmunology, 128(1-2), 77-81.

Klinge, C. M. (2000). Estrogen receptor interaction with co-activators and co-repressors. Steroids, 65(5), 227-251.

Koehler, K. F., Helguero, L. A., Haldosén, L. A., Warner, M., & Gustafsson, J. A. (2005). Reflections on the discovery and significance of estrogen receptor β. Endocrine reviews, 26(3), 465-478.

Kuiper, G. G., & Gustafsson, J. Å. (1997). The novel estrogen receptor‐β subtype: potential role in the cell‐and promoter‐specific actions of estrogens and anti‐estrogens. FEBS letters, 410(1), 87-90.

Kuiper, G. G., Enmark, E., Pelto-Huikko, M., Nilsson, S., & Gustafsson, J. A. (1996). Cloning of a novel receptor expressed in rat prostate and ovary. Proceedings of the National Academy of Sciences, 93(12), 5925-5930.

Kumar, R., & Thompson, E. B. (1999). The structure of the nuclear hormone receptors. Steroids, 64(5), 310-319.

Lélu, K., Laffont, S., Delpy, L., Paulet, P. E., Périnat, T., Tschanz, S. A., ... & Guéry, J. C. (2011). Estrogen receptor α signaling in T lymphocytes is required for estradiol-mediated inhibition of Th1 and Th17 cell differentiation and protection against experimental autoimmune encephalomyelitis. The Journal of Immunology, 1101578.

Meldrum, D. R. (1993). Female reproductive aging—ovarian and uterine factors. Fertility and sterility, 59(1), 1-5.

Olsson, T., Barcellos, L. F., & Alfredsson, L. (2017). Interactions between genetic, lifestyle and environmental risk factors for multiple sclerosis. Nature Reviews Neurology, 13(1), 25.

Pineda, B., Hermenegildo, C., Tarín, J. J., Laporta, P., Cano, A., & García-Pérez, M. A. (2010). Alleles and haplotypes of the estrogen receptor alpha gene are associated with an increased risk of spontaneous abortion. Fertility and sterility, 93(6), 1809-1815.

Rhead, B., Bäärnhielm, M., Gianfrancesco, M., Mok, A., Shao, X., Quach, H., ... & Hedström, A. K. (2016). Mendelian randomization shows a causal effect of low vitamin D on multiple sclerosis risk. Neurology Genetics, 2(5), e97.

Richardson, J. E. (1994). Pathology of multiple sclerosis: some new developments. Clinical neuroscience (New York, NY), 2(3-4), 253-257.

Santen, R. J., Song, R. X., Masamura, S., Yue, W., Fan, P., Sogon, T., ... & Eguchi, H. (2008). Adaptation to estradiol deprivation causes up-regulation of growth factor pathways and hypersensitivity to estradiol in breast cancer cells. In Innovative endocrinology of cancer (pp. 19-34). Springer, New York, NY.

Sundermann, E. E., Maki, P. M., & Bishop, J. R. (2010). A review of estrogen receptor α gene (ESR1) polymorphisms, mood, and cognition. Menopause (New York, NY), 17(4), 874.

Sundqvist, E., Bergström, T., Daialhosein, H., Nyström, M., Sundström, P., Hillert, J., ... & Olsson, T. (2014). Cytomegalovirus seropositivity is negatively associated with multiple sclerosis. Multiple Sclerosis Journal, 20(2), 165-173.

Tanriverdi, F., Silveira, L. F., MacColl, G. S., & Bouloux, P. M. (2003). The hypothalamic-pituitary-gonadal axis: immune function and autoimmunity. Journal of Endocrinology, 176(3), 293-304.

van Munster, C. E., & Uitdehaag, B. M. (2017). Outcome measures in clinical trials for multiple sclerosis. CNS drugs, 31(3), 217-236.
Published
2019-02-27
How to Cite
Mosarrezaii, A., Mohammadi, P., & Elyasi, S. (2019). Investigation of Estrogen (ESR) Receptor Gene Polymorphism in Multiple Sclerosis (MS) Disease. Amazonia Investiga, 8(18), 150-156. Retrieved from https://www.amazoniainvestiga.info/index.php/amazonia/article/view/291
Section
Articles
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