Research Article
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Year 2017, Volume: 8 Issue: 2, 39 - 44, 30.06.2017
https://doi.org/10.5799/jcei.333378

Abstract

References

  • 1. The Rotterdam ESHRE/ASRM-Sponsored PCOS Consensus Workshop Group. Revised 2003 consensus on diagnostic criteria and long-term health risks related to polycystic ovary syndrome. Fertil Steril. 2004;81:19-25. 2. Frank S. Polycystic ovary syndrome. N Engl J Med. 1995;333:853-61. 3. Jakubowski L. Genetic aspects of polycystic ovary syndrome. Endokrynol Pol. 2005;56:285-93. 4. Elghblawl E. Polycystic ovary syndrome and female reproduction. Br J Nurs. 2007;16: 1118-21. 5. Norman RJ, Dewailly D, Legro RS, Hickey TE. Polycystic ovary syndrome. Lancet. 2007;370:685-97. 6. Deligeoroglou E, Kouskouti C, Christopoulos P. The role of genes in the polycystic ovary syndrome: Predisposition and mechanisms. Gynecol Endocrinol. 2009;25: 603-9. 7. Simoni M, Tempfer CB, Destenaves B, Fauser BC. Functional genetic polymorphisms and female reproductive disoreders: Part I: Polycystic ovary syndrome and ovarian response. Hum Reprod Update. 2008;14:459-84. 8.Valkenburg O, Uitterlinden AG, Piersman D, Hofman A, Themmen AP, de Jong FH, et al. Genetic polymorphism of GnRH and gonadotrophic hormone receptors affect the phenotype of polycystic ovary syndrome. Hum Reprod. 2009;24:2014-22. 9.Gu BH, Park JM, Back KH. Genetic variations of follicle stimulating hormone receptor are associated with polycystic ovary syndrome. Int J Mol Med. 2010;26:107-12. 10. Gromoll J,Ried T, Holtgreve-Grez H, Nieschlag E, Gudermann T. Localization of the human FSH receptor to 2p21 using a genomic probe comprising exon 10. J Mol Endocrinol.1994;12:265-71. 11. Simoni M, Gromoll J, Niesclag E. The follicle-stimulating hormone receptor: biochemistry, molecular biology, physiology, and pathophysiology. Endocr Rev. 1997;18: 739-73. 12.Fu L, Zhang Z, Zhang A, Xu J, Huang X, Zheng Q,et al. Association study between FSHR Ala307Thr and Ser680Asn variants and polycystic ovary syndrome (PCOS) in Northern Chinese Han women. J Assist Reprod Genet. 2013; 30(5): 717-21. 13. Altmäe S, Hovatta O, Stavreus-Evers A, Salumets A. Genetic predictors of controlled ovarian hyperstimulation: where do we stand today? Hum Reprod Update. 2011;17(6):813-28. 14.La Marca A, Sighinolfi G, Argento C, Grisendi V, Casarini L, Volpe A, Simoni M. Polymorphisms in gonadotropin and gonadotropin receptor genes as markers of ovarian reserve and response in in vitro fertilization.Fertil Steril. 2013; 99:970-8. 15. Laven JS, Mulders AG, Suryandari DA, Gromoll J, Nieschlag E, Fauser BC, Simoni M. Follicle-stimulating hormone receptor polymorphisms in women with normogonadotrophic anovulatory infertility. Fertil Steril. 2003;80: 986-992. 16. Mohiyiddeen L, Newman WG, McBurney H, Mulugeta B, Roberts SA, Nardo LG. Follicle-stimulating hormone receptor gene polymorphisms are not associated with ovarian reserve markers. Fertil Steril. 2012; 97:677-81. 17. Revised 2003 consensus on diagnostic criteria and long-term health risks related to polycystic ovary syndrome (PCOS). Hum Reprod. 2004;19: 263-65. 18.Katulski K, Slawek S, Czyzyk A, Podfigurna-Stopa A, Paczkowska K,. Ignaszak N, Podkowa N, Meczekalski B. Bone mineral density in women with polycystic ovary syndrome. J Endocrinol Invest. 2014; 37: 1219–1224. 19.Manco M, Castagneto-Gissey L, Arrighi E, Carnicelli A, Brufani C, Luciano R, Mingrone G. Insulin dynamics in young women with polycystic ovary syndrome and normal glucose tolerance across categories of body mass index. PLoS One. 2014; 9: e92995 20. Matthews D. R., Hosker J. P., Rudenski A. S., Naylor B. A., Treacher D. F., Turner R. C. Homeostasis model assessment: insulin resistance and β-cell function from fasting plasma glucose and insulin concentrations in man. Diabetologia. 1985;28:412–419. 21. Balkan M, Gedik A, Akkoc H, Izci Ay O, Erdal ME, Isi H, et al. FSHR single nucleotide polymorphism frequencies in proven fathers and infertile men in Southeast Turkey. J Biomed Biotechnol. 2010;2010:640318. 22.Kuijper EA, Blankenstein MA, Luttikhof LJ, Roek SJ, Overbeek A, Hompes PG, Twisk JW, Lambalk CB. Frequency distribution of polymorphisms in the FSH receptor gene in infertility patients of different ethnicity. Reprod Biomed Online. 2010;20:588-93. 23.Perez Mayorga M, Gromoll J, Behre HM, Gassner C, Nieschlag E, Simoni M. Ovarian response to follicle-stimulating hormone (FSH) stimulation depends on the FSH receptor genotype. J Clin Endocrinol Metab. 2000;85:3365-9. 24. Behre HM, Greb RR, Mempel A, Sonntag B, Kiesel L, Kaltwasser P, Seliger E, Röpke F, Gromoll J, Nieschlag E, Simoni M. Significance of a common single nucleotide polymorphism in exon 10 of the follicle-stimulating hormone (FSH) receptor gene for the ovarian response to FSH: a pharmacogenetic approach to controlled ovarian hyperstimulation. Pharmacogenet Genomics. 2005;15:451-6. 25.Aittomäki K, Lucena JL, Pakarinen P, Sistonen P, Tapanainen J, Gromoll J, Kaskikari R, Sankila EM, Lehväslaiho H, Engel AR, Nieschlag E, Huhtaniemi I, de la Chapelle A. Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure.Cell. 1995;82:959-68. 26. Qiu L, Liu J, Hei QM. Association between two polymorphisms of follicle stimulating hormone receptor gene and susceptibility to polycystic ovary syndrome: a meta-analysis. Chin Med Sci J. 2015;30:44-50. 27. Sudo S, Kudo M, Wada S, Sato O, Hsueh AJ, Fujimoto S. Geenetic and functional anayses of polymorhisms in the human FSH eceptor gene. Mol Hum Reprod 2002;8:893-99. 28. Du J, Zhang W, Guo L, Zhang Z, Shi H, Wang J, Zhang H, Gao L, Feng G, He L.Two FSHR variants, haplotypes and meta-analysis in Chinese women with premature ovarian failure and polycystic ovary syndrome. Mol Genet Metab. 2010;100: 292-5. 29. Wu XQ, Xu SM, Liu JF, Bi XY, Wu YX, Liu J. Association between FSHR polymorphisms and polycystic ovary syndrome among Chinese women in north China. J Assist Reprod Genet. 2014;31: 371-7. 30. Singhasena W, Pantasri T, Piromlertamorn W, Samchimchom S, Vutyavanich T. Follicle-stimulating hormone receptor gene polymorphism in chronic anovulatory women, with or without polycystic ovary syndrome: a cross-sectional study. Reprod Biol Endocrinol. 2014;12 86-92. 31. Unsal T, Konac E, Yesilkaya E, Yilmaz A, Bideci A, Ilke Onen H, Cinaz P, Menevse A. Genetic polymorphisms of FSHR, CYP17, CYP1A1, CAPN10, INSR, SERPINE1 genes in adolescent girls with polycystic ovary syndrome. J Assist Reprod Genet. 2009;26:205-16. 32. Norman RJ, Dewailly D, Legro RS, Hickey TE. Polycystic ovary syndrome. Lancet. 2007;370:685-97. 33. de Koning CH, Benjamins T, Harms P, et al. The distribution of FSH receptor isoforms is related to basal FSH levels in subfertile women with normal menstrual cycles. Hum Reprod. 2006;21:443-6.

A Single Nucleotide Polymorphism of Follicle-Stimulating Hormone Receptor Gene in Turkish Women With Polycystic Ovary Syndrome: A Cross-Sectional Study

Year 2017, Volume: 8 Issue: 2, 39 - 44, 30.06.2017
https://doi.org/10.5799/jcei.333378

Abstract

Objective: The aim of this study was to evaluate both the frequency of Asn680Ser polymorphism
of follicle stimulating hormone receptor (FSHR) and whether this polymorphism is associated
with polycystic ovary syndrome (PCOS) in a Turkish population.
Patients and Methods: 100 patients with PCOS and 100 controls were recruited from Eastern
Turkey. Venous blood samples were obtained for genetic study, hormone profile, glucose and
insulin assays. Asn680Ser polymorphism of FSHR was analyzed by polymerase chain reaction
(PCR) amplification and direct DNA sequencing. Two groups were compared for body mass
index (BMI), modified Ferriman-Gallwey (mFG) score, fasting glucose, fasting insulin, insulin
resistance, hormone and lipid status. Then, all patients were divided into subgroups for
genotypes of FSHR polymorphism. These subgroups were also compared for these mentioned
parameters.
Results: The difference between women with PCOS and controls in allelic frequencies for
Asn680Ser polymorphism of FSHR were not significant. When this single nucleotide
polymorphism (SNP) at codon 680 was separately analyzed, no significant difference was found
in the genotype frequency among the Asn680Asn, Asn680Ser, andSer680Ser subgroups. There
were no significant differences in BMI, mFG score, levels of fasting glucose and fasting insulin,
HOMA-IR, and also levels of FSH, luteinizing hormone, estradiol, prolactin, thyroid stimulating
hormone, total testosterone among the PCOS patients carrying different genotypes of
Asn680Ser polymorphism
Conclusion: there is no association between Asn680Ser polymorphism of FSHR and PCOS in
Turkish women from eastern provinces of Turkey. In addition, this SNP seems not to be
associated with BMI, IR and PCOS-associated endocrine hormones.

References

  • 1. The Rotterdam ESHRE/ASRM-Sponsored PCOS Consensus Workshop Group. Revised 2003 consensus on diagnostic criteria and long-term health risks related to polycystic ovary syndrome. Fertil Steril. 2004;81:19-25. 2. Frank S. Polycystic ovary syndrome. N Engl J Med. 1995;333:853-61. 3. Jakubowski L. Genetic aspects of polycystic ovary syndrome. Endokrynol Pol. 2005;56:285-93. 4. Elghblawl E. Polycystic ovary syndrome and female reproduction. Br J Nurs. 2007;16: 1118-21. 5. Norman RJ, Dewailly D, Legro RS, Hickey TE. Polycystic ovary syndrome. Lancet. 2007;370:685-97. 6. Deligeoroglou E, Kouskouti C, Christopoulos P. The role of genes in the polycystic ovary syndrome: Predisposition and mechanisms. Gynecol Endocrinol. 2009;25: 603-9. 7. Simoni M, Tempfer CB, Destenaves B, Fauser BC. Functional genetic polymorphisms and female reproductive disoreders: Part I: Polycystic ovary syndrome and ovarian response. Hum Reprod Update. 2008;14:459-84. 8.Valkenburg O, Uitterlinden AG, Piersman D, Hofman A, Themmen AP, de Jong FH, et al. Genetic polymorphism of GnRH and gonadotrophic hormone receptors affect the phenotype of polycystic ovary syndrome. Hum Reprod. 2009;24:2014-22. 9.Gu BH, Park JM, Back KH. Genetic variations of follicle stimulating hormone receptor are associated with polycystic ovary syndrome. Int J Mol Med. 2010;26:107-12. 10. Gromoll J,Ried T, Holtgreve-Grez H, Nieschlag E, Gudermann T. Localization of the human FSH receptor to 2p21 using a genomic probe comprising exon 10. J Mol Endocrinol.1994;12:265-71. 11. Simoni M, Gromoll J, Niesclag E. The follicle-stimulating hormone receptor: biochemistry, molecular biology, physiology, and pathophysiology. Endocr Rev. 1997;18: 739-73. 12.Fu L, Zhang Z, Zhang A, Xu J, Huang X, Zheng Q,et al. Association study between FSHR Ala307Thr and Ser680Asn variants and polycystic ovary syndrome (PCOS) in Northern Chinese Han women. J Assist Reprod Genet. 2013; 30(5): 717-21. 13. Altmäe S, Hovatta O, Stavreus-Evers A, Salumets A. Genetic predictors of controlled ovarian hyperstimulation: where do we stand today? Hum Reprod Update. 2011;17(6):813-28. 14.La Marca A, Sighinolfi G, Argento C, Grisendi V, Casarini L, Volpe A, Simoni M. Polymorphisms in gonadotropin and gonadotropin receptor genes as markers of ovarian reserve and response in in vitro fertilization.Fertil Steril. 2013; 99:970-8. 15. Laven JS, Mulders AG, Suryandari DA, Gromoll J, Nieschlag E, Fauser BC, Simoni M. Follicle-stimulating hormone receptor polymorphisms in women with normogonadotrophic anovulatory infertility. Fertil Steril. 2003;80: 986-992. 16. Mohiyiddeen L, Newman WG, McBurney H, Mulugeta B, Roberts SA, Nardo LG. Follicle-stimulating hormone receptor gene polymorphisms are not associated with ovarian reserve markers. Fertil Steril. 2012; 97:677-81. 17. Revised 2003 consensus on diagnostic criteria and long-term health risks related to polycystic ovary syndrome (PCOS). Hum Reprod. 2004;19: 263-65. 18.Katulski K, Slawek S, Czyzyk A, Podfigurna-Stopa A, Paczkowska K,. Ignaszak N, Podkowa N, Meczekalski B. Bone mineral density in women with polycystic ovary syndrome. J Endocrinol Invest. 2014; 37: 1219–1224. 19.Manco M, Castagneto-Gissey L, Arrighi E, Carnicelli A, Brufani C, Luciano R, Mingrone G. Insulin dynamics in young women with polycystic ovary syndrome and normal glucose tolerance across categories of body mass index. PLoS One. 2014; 9: e92995 20. Matthews D. R., Hosker J. P., Rudenski A. S., Naylor B. A., Treacher D. F., Turner R. C. Homeostasis model assessment: insulin resistance and β-cell function from fasting plasma glucose and insulin concentrations in man. Diabetologia. 1985;28:412–419. 21. Balkan M, Gedik A, Akkoc H, Izci Ay O, Erdal ME, Isi H, et al. FSHR single nucleotide polymorphism frequencies in proven fathers and infertile men in Southeast Turkey. J Biomed Biotechnol. 2010;2010:640318. 22.Kuijper EA, Blankenstein MA, Luttikhof LJ, Roek SJ, Overbeek A, Hompes PG, Twisk JW, Lambalk CB. Frequency distribution of polymorphisms in the FSH receptor gene in infertility patients of different ethnicity. Reprod Biomed Online. 2010;20:588-93. 23.Perez Mayorga M, Gromoll J, Behre HM, Gassner C, Nieschlag E, Simoni M. Ovarian response to follicle-stimulating hormone (FSH) stimulation depends on the FSH receptor genotype. J Clin Endocrinol Metab. 2000;85:3365-9. 24. Behre HM, Greb RR, Mempel A, Sonntag B, Kiesel L, Kaltwasser P, Seliger E, Röpke F, Gromoll J, Nieschlag E, Simoni M. Significance of a common single nucleotide polymorphism in exon 10 of the follicle-stimulating hormone (FSH) receptor gene for the ovarian response to FSH: a pharmacogenetic approach to controlled ovarian hyperstimulation. Pharmacogenet Genomics. 2005;15:451-6. 25.Aittomäki K, Lucena JL, Pakarinen P, Sistonen P, Tapanainen J, Gromoll J, Kaskikari R, Sankila EM, Lehväslaiho H, Engel AR, Nieschlag E, Huhtaniemi I, de la Chapelle A. Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure.Cell. 1995;82:959-68. 26. Qiu L, Liu J, Hei QM. Association between two polymorphisms of follicle stimulating hormone receptor gene and susceptibility to polycystic ovary syndrome: a meta-analysis. Chin Med Sci J. 2015;30:44-50. 27. Sudo S, Kudo M, Wada S, Sato O, Hsueh AJ, Fujimoto S. Geenetic and functional anayses of polymorhisms in the human FSH eceptor gene. Mol Hum Reprod 2002;8:893-99. 28. Du J, Zhang W, Guo L, Zhang Z, Shi H, Wang J, Zhang H, Gao L, Feng G, He L.Two FSHR variants, haplotypes and meta-analysis in Chinese women with premature ovarian failure and polycystic ovary syndrome. Mol Genet Metab. 2010;100: 292-5. 29. Wu XQ, Xu SM, Liu JF, Bi XY, Wu YX, Liu J. Association between FSHR polymorphisms and polycystic ovary syndrome among Chinese women in north China. J Assist Reprod Genet. 2014;31: 371-7. 30. Singhasena W, Pantasri T, Piromlertamorn W, Samchimchom S, Vutyavanich T. Follicle-stimulating hormone receptor gene polymorphism in chronic anovulatory women, with or without polycystic ovary syndrome: a cross-sectional study. Reprod Biol Endocrinol. 2014;12 86-92. 31. Unsal T, Konac E, Yesilkaya E, Yilmaz A, Bideci A, Ilke Onen H, Cinaz P, Menevse A. Genetic polymorphisms of FSHR, CYP17, CYP1A1, CAPN10, INSR, SERPINE1 genes in adolescent girls with polycystic ovary syndrome. J Assist Reprod Genet. 2009;26:205-16. 32. Norman RJ, Dewailly D, Legro RS, Hickey TE. Polycystic ovary syndrome. Lancet. 2007;370:685-97. 33. de Koning CH, Benjamins T, Harms P, et al. The distribution of FSH receptor isoforms is related to basal FSH levels in subfertile women with normal menstrual cycles. Hum Reprod. 2006;21:443-6.
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Details

Subjects Health Care Administration
Journal Section Research Article
Authors

Ümit Naykı This is me

Publication Date June 30, 2017
Published in Issue Year 2017 Volume: 8 Issue: 2

Cite

APA Naykı, Ü. (2017). A Single Nucleotide Polymorphism of Follicle-Stimulating Hormone Receptor Gene in Turkish Women With Polycystic Ovary Syndrome: A Cross-Sectional Study. Journal of Clinical and Experimental Investigations, 8(2), 39-44. https://doi.org/10.5799/jcei.333378
AMA Naykı Ü. A Single Nucleotide Polymorphism of Follicle-Stimulating Hormone Receptor Gene in Turkish Women With Polycystic Ovary Syndrome: A Cross-Sectional Study. J Clin Exp Invest. June 2017;8(2):39-44. doi:10.5799/jcei.333378
Chicago Naykı, Ümit. “A Single Nucleotide Polymorphism of Follicle-Stimulating Hormone Receptor Gene in Turkish Women With Polycystic Ovary Syndrome: A Cross-Sectional Study”. Journal of Clinical and Experimental Investigations 8, no. 2 (June 2017): 39-44. https://doi.org/10.5799/jcei.333378.
EndNote Naykı Ü (June 1, 2017) A Single Nucleotide Polymorphism of Follicle-Stimulating Hormone Receptor Gene in Turkish Women With Polycystic Ovary Syndrome: A Cross-Sectional Study. Journal of Clinical and Experimental Investigations 8 2 39–44.
IEEE Ü. Naykı, “A Single Nucleotide Polymorphism of Follicle-Stimulating Hormone Receptor Gene in Turkish Women With Polycystic Ovary Syndrome: A Cross-Sectional Study”, J Clin Exp Invest, vol. 8, no. 2, pp. 39–44, 2017, doi: 10.5799/jcei.333378.
ISNAD Naykı, Ümit. “A Single Nucleotide Polymorphism of Follicle-Stimulating Hormone Receptor Gene in Turkish Women With Polycystic Ovary Syndrome: A Cross-Sectional Study”. Journal of Clinical and Experimental Investigations 8/2 (June 2017), 39-44. https://doi.org/10.5799/jcei.333378.
JAMA Naykı Ü. A Single Nucleotide Polymorphism of Follicle-Stimulating Hormone Receptor Gene in Turkish Women With Polycystic Ovary Syndrome: A Cross-Sectional Study. J Clin Exp Invest. 2017;8:39–44.
MLA Naykı, Ümit. “A Single Nucleotide Polymorphism of Follicle-Stimulating Hormone Receptor Gene in Turkish Women With Polycystic Ovary Syndrome: A Cross-Sectional Study”. Journal of Clinical and Experimental Investigations, vol. 8, no. 2, 2017, pp. 39-44, doi:10.5799/jcei.333378.
Vancouver Naykı Ü. A Single Nucleotide Polymorphism of Follicle-Stimulating Hormone Receptor Gene in Turkish Women With Polycystic Ovary Syndrome: A Cross-Sectional Study. J Clin Exp Invest. 2017;8(2):39-44.