Distribution of FSHR-29 polymorphism among women with polycystic ovary syndrome and association with level of its receptor expression in Granulosa cells of infertile women

Authors

  • Zainab Fadhil Abbas College of medical technology / Uruk University, Baghdad - Iraq
  • Baqer J. Hasan College of veterinary medicine / Baghdad University , Baghdad – Iraq
  • Sumaya Loay Mohamed Shams Al-Dean College of medical technology /Middle Technical University , Baghdad - Iraq
  • Hossein Mozdarani 4Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran

Follicle stimulating hormone receptor (FSHR-gene) is the most studied genetic factor in women with Polycystic Ovarian Syndrome (PCOS). Here, the prevalence of -29 variant of FSHR and the expression level in Granulosa cells in PCOS women undergoing in vitro fertilization (IVF) was investigated. The genotype was studied in 100 PCOS patients and 100 healthy controls undergoing IVF. Moreover, the total RNA was extracted from granulose cells in 30 PCOS patients and 20 healthy controls. The results suggested that GA haplotype of -29 of FSHR appeared more frequent in PCOS patients and might play a role in genetic susceptibility to PCOS. Likewise, the expression of FSHR at mRNA level was reduced in subjects with AA haplotype of -29, as compared with the GG genotype. Also, the expression of mRNA in granulosa cells was upregulated in PCOS patients. Our findings demonstrated a statistically significant association between haplotype of -29 of FSHR with PCOS.

 

Keywords:

Follicle stimulating hormone receptor, FSHR-29 polymorphism, Polycystic ovary, Granulosa cells

[1] Altmäe S, Hovatta O, Stavreus-Evers A, Salumets AJHru. Genetic predictors of controlled ovarian hyperstimulation: where do we stand today? 2011;17(6):813-28.

[2] Gu B-H, Park J-M, Baek K-HJIjomm. Genetic variations of follicle stimulating hormone receptor are associated with polycystic ovary syndrome. 2010;26(1):107-12.

[3] Gerasimova T, Thanasoula MN, Zattas D, Seli E, Sakkas D, Lalioti MDJTJoCE, et al. Identification and in vitro characterization of follicle stimulating hormone (FSH) receptor variants associated with abnormal ovarian response to FSH. 2010;95(2):529-36.

[4] Phillip M, Arbelle JE, Segev Y, Parvari RJNEJoM. Male hypogonadism due to a mutation in the gene for the β-subunit of follicle-stimulating hormone. 1998;338(24):1729-32.

[5] Qiao J, Feng HLJHru. Extra-and intra-ovarian factors in polycystic ovary syndrome: impact on oocyte maturation and embryo developmental competence. 2011;17(1):17-33.

[6] Sudo S, Kudo M, Wada S-i, Sato O, Hsueh AJ, Fujimoto SJMhr. Genetic and functional analyses of polymorphisms in the human FSH receptor gene. 2002;8(10):893-9.

[7] Dolfin E, Guani B, Lussiana C, Mari C, Restagno G, Revelli AJJoar, et al. FSH-receptor Ala307Thr polymorphism is associated to polycystic ovary syndrome and to a higher responsiveness to exogenous FSH in Italian women. 2011;28(10):925-30.

[8] Mayorga MP, Gromoll Jr, Behre HM, Gassner C, Nieschlag E, Simoni MJTJoCE, et al. Ovarian response to follicle-stimulating hormone (FSH) stimulation depends on the FSH receptor genotype. 2000;85(9):3365-9.

[9] Morón FJ, Ruiz AJP. Pharmacogenetics of controlled ovarian hyperstimulation: time to corroborate the clinical utility of FSH receptor genetic markers. 2010;11(11):1613-8.

[10] Desai SS, Achrekar SK, Pathak BR, Desai SK, Mangoli VS, Mangoli RV, et al. Follicle-stimulating hormone receptor polymorphism (G− 29A) is associated with altered level of receptor expression in granulosa cells. 2011;96(9):2805-12.

[11] De Koning C, Benjamins T, Harms P, Homburg R, Van Montfrans J, Gromoll J, et al. The distribution of FSH receptor isoforms is related to basal FSH levels in subfertile women with normal menstrual cycles. 2006;21(2):443-6.

[12] Mohiyiddeen L, Nardo LGJHF. Single-nucleotide polymorphisms in the FSH receptor gene and ovarian performance: future role in IVF. 2010;13(2):72-8.

[13] Govind A, Obhrai M, Clayton RJTJoCE, Metabolism. Polycystic ovaries are inherited as an autosomal dominant trait: analysis of 29 polycystic ovary syndrome and 10 control families. 1999;84(1):38-43.

[14] Catteau-Jonard S, Jamin SP, Leclerc A, Gonzalès J, Dewailly D, Di Clemente NJTJoCE, et al. Anti-Mullerian hormone, its receptor, FSH receptor, and androgen receptor genes are overexpressed by granulosa cells from stimulated follicles in women with polycystic ovary syndrome. 2008;93(11):4456-61.

[15] Lewandowski KC, Cajdler-Łuba A, Salata I, Bieńkiewicz M, Lewiński AJEP. The utility of the gonadotrophin releasing hormone (GnRH) test in the diagnosis of polycystic ovary syndrome (PCOS). 2011;62(2):120-8.

[16] reproduction REASPCWGJH. Revised 2003 consensus on diagnostic criteria and long‐term health risks related to polycystic ovary syndrome (PCOS). 2004;19(1):41-7.

[17] Unsal T, Konac E, Yesilkaya E, Yilmaz A, Bideci A, Onen HI, et al. Genetic polymorphisms of FSHR, CYP17, CYP1A1, CAPN10, INSR, SERPINE1 genes in adolescent girls with polycystic ovary syndrome. 2009;26(4):205-16.

[18] Amato P, Simpson JLJBP, Obstetrics RC, Gynaecology. The genetics of polycystic ovary syndrome. 2004;18(5):707-18.

[19] La Marca A, Sighinolfi G, Argento C, Grisendi V, Casarini L, Volpe A, et al. Polymorphisms in gonadotropin and gonadotropin receptor genes as markers of ovarian reserve and response in in vitro fertilization. 2013;99(4):970-8. e1.

[20] Nakayama T, Kuroi N, Sano M, Tabara Y, Katsuya T, Ogihara T, et al. Mutation of the follicle-stimulating hormone receptor gene 5′-untranslated region associated with female hypertension. 2006;48(3):512-8.

[21] Achrekar SK, Modi DN, Desai SK, Mangoli VS, Mangoli RV, Mahale SDJF, et al. Follicle-stimulating hormone receptor polymorphism (Thr307Ala) is associated with variable ovarian response and ovarian hyperstimulation syndrome in Indian women. 2009;91(2):432-9.

[22] Orio F, Ferrarini E, Cascella T, Dimida A, Palomba S, Gianetti E, et al. Genetic analysis of the follicle stimulating hormone receptor gene in women with polycystic ovary syndrome. 2006;29(11):975-82.

[23] Almahbobi G, Anderiesz C, Hutchinson P, McFarlane JR, Wood C, Trounson AOJCe. Functional integrity of granulosa cells from polycystic ovaries. 1996;44(5):571-80.

[24] Mason HD, Willis DS, Beard RW, Winston R, Margara R, Franks SJTJoCE, et al. Estradiol production by granulosa cells of normal and polycystic ovaries: relationship to menstrual cycle history and concentrations of gonadotropins and sex steroids in follicular fluid. 1994;79(5):1355-60.

Distribution of FSHR-29 polymorphism among women with polycystic ovary syndrome and association with level of its receptor expression in Granulosa cells of infertile women. (2023). Journal Port Science Research, 6(1), 4-10. https://doi.org/10.36371/port.2023.1.2

License

Copyright (c) 2023 Journal Port Science Research

Creative Commons License

This work is licensed under a Creative Commons Attribution-ShareAlike 4.0 International License.

How to Cite

Distribution of FSHR-29 polymorphism among women with polycystic ovary syndrome and association with level of its receptor expression in Granulosa cells of infertile women. (2023). Journal Port Science Research, 6(1), 4-10. https://doi.org/10.36371/port.2023.1.2