Clinical and Experimental Reproductive Medicine

  • 제48권1호
  • /
  • Pages.69-79
  • /
  • 2021
  • /
  • 2233-8233(pISSN)
  • /
  • 2233-8241(eISSN)
대한생식의학회 (The Korean Society for Reproductive Medicine)
권호 표지
DOI QR코드

DOI QR Code

Association of single-nucleotide polymorphisms in the ESR2 and FSHR genes with poor ovarian response in infertile Jordanian women

  • Sindiani, Amer Mahmoud (Department of Obstetrics and Gynecology, Faculty of Medicine, Jordan University of Science and Technology) ;
  • Batiha, Osamah (Department of Biotechnology and Genetic Engineering, Jordan University of Science and Technology) ;
  • Al-zoubi, Esra'a (Department of Biotechnology and Genetic Engineering, Jordan University of Science and Technology) ;
  • Khadrawi, Sara (Department of Biotechnology and Genetic Engineering, Jordan University of Science and Technology) ;
  • Alsoukhni, Ghadeer (Department of Biotechnology and Genetic Engineering, Jordan University of Science and Technology) ;
  • Alkofahi, Ayesha (Department of Biotechnology and Genetic Engineering, Jordan University of Science and Technology) ;
  • Alahmad, Nour Alhoda (Department of Biotechnology and Genetic Engineering, Jordan University of Science and Technology) ;
  • Shaaban, Sherin (Department of Biotechnology and Genetic Engineering, Jordan University of Science and Technology) ;
  • Alshdaifat, Eman (Department of Obstetrics and Gynecology, Faculty of Medicine, Yarmouk University) ;
  • Abu-Halima, Masood (Institute of Human Genetics, Saarland University)
  • 투고 : 2020.03.28
  • 심사 : 2020.08.17
  • 발행 : 2021.03.31
PDF 다운로드
⟨ 이전 논문 다음 논문 ⟩

초록

Objective: Poor ovarian response (POR) refers to a subnormal follicular response that leads to a decrease in the quality and quantity of the eggs retrieved after ovarian stimulation during assisted reproductive treatment (ART). The present study investigated the associations of multiple variants of the estrogen receptor 2 (ESR2) and follicle-stimulating hormone receptor (FSHR) genes with POR in infertile Jordanian women undergoing ART. Methods: Four polymorphisms, namely ESR2 rs1256049, ESR2 rs4986938, FSHR rs6165, and FSHR rs6166, were investigated in 60 infertile Jordanian women undergoing ART (the case group) and 60 age-matched fertile women (the control group), with a mean age of 33.60±6.34 years. Single-nucleotide polymorphisms (SNPs) were detected by restriction fragment length polymorphism and then validated using Sanger sequencing. Results: The p-value of the difference between the case and control groups regarding FSHR rs6166 was very close to 0.05 (p=0.054). However, no significant differences were observed between the two groups in terms of the other three SNPs, namely ESR2 rs1256049, ESR2 rs4986938, and FSHR rs6165 (p=0.561, p=0.433, and p=0.696, respectively). Conclusion: The association between FSHR rs6166 and POR was not statistically meaningful in the present study, but the near-significant result of this experiment suggests that statistical significance might be found in a future study with a larger number of patients.

키워드

과제정보

The authors would like to extend their gratitude to Dr. Mohammed Altaleb, who is affiliated with the Department of Statistics at Yarmouk University in Jordan, for his assistance with the statistical analysis.

참고문헌

  1. Jin X, Wang G, Liu S, Zhang J, Zeng F, Qiu Y, et al. Survey of the situation of infertile women seeking in vitro fertilization treatment in China. Biomed Res Int 2013;2013:179098.
  2. Farquhar C, Marjoribanks J. Assisted reproductive technology: an overview of Cochrane Reviews. Cochrane Database Syst Rev 2018;8:CD010537.
  3. Boudjenah R, Molina-Gomes D, Torre A, Bergere M, Bailly M, Boitrelle F, et al. Genetic polymorphisms influence the ovarian response to rFSH stimulation in patients undergoing in vitro fertilization programs with ICSI. PLoS One 2012;7:e38700. https://doi.org/10.1371/journal.pone.0038700
  4. Sheikhha MH, Eftekhar M, Kalantar SM. Investigating the association between polymorphism of follicle-stimulating hormone receptor gene and ovarian response in controlled ovarian hyperstimulation. J Hum Reprod Sci 2011;4:86-90. https://doi.org/10.4103/0974-1208.86089
  5. Coccia ME, Rizzello F. Ovarian reserve. Ann N Y Acad Sci 2008;1127:27-30. https://doi.org/10.1196/annals.1434.011
  6. Kligman I, Rosenwaks Z. Differentiating clinical profiles: predicting good responders, poor responders, and hyperresponders. Fertil Steril 2001;76:1185-90. https://doi.org/10.1016/S0015-0282(01)02893-X
  7. de Mattos CS, Trevisan CM, Peluso C, Adami F, Cordts EB, Christofolini DM, et al. ESR1 and ESR2 gene polymorphisms are associated with human reproduction outcomes in Brazilian women. J Ovarian Res 2014;7:114. https://doi.org/10.1186/s13048-014-0114-2
  8. Kaviani M, Ghaderian SM, Arefi S, Hashemi M, Afjeh SS. Role of FSHR rs6165 and ESR2 rs4986938 polymorphisms in ovarian stimulation of Iranian women who underwent assisted reproduction treatment. Hum Antibodies 2017;26:121-6. https://doi.org/10.3233/hab-170329
  9. Simoni M, Gromoll J, Nieschlag E. The follicle-stimulating hormone receptor: biochemistry, molecular biology, physiology, and pathophysiology. Endocr Rev 1997;18:739-73. https://doi.org/10.1210/er.18.6.739
  10. Mi H, Lazareva-Ulitsky B, Loo R, Kejariwal A, Vandergriff J, Rabkin S, et al. The PANTHER database of protein families, subfamilies, functions and pathways. Nucleic Acids Res 2005;33:D284-8. https://doi.org/10.1093/nar/gki078
  11. Lamminen T, Huhtaniemi I. A common genetic variant of luteinizing hormone: relation to normal and aberrant pituitary-gonadal function. Eur J Pharmacol 2001;414:1-7. https://doi.org/10.1016/S0014-2999(01)00756-7
  12. Jiang M, Pakarinen P, Zhang FP, El-Hefnawy T, Koskimies P, Pettersson K, et al. A common polymorphic allele of the human luteinizing hormone beta-subunit gene: additional mutations and differential function of the promoter sequence. Hum Mol Genet 1999;8:2037-46. https://doi.org/10.1093/hmg/8.11.2037
  13. Ferraretti AP, La Marca A, Fauser BC, Tarlatzis B, Nargund G, Gianaroli L, et al. ESHRE consensus on the definition of 'poor response' to ovarian stimulation for in vitro fertilization: the Bologna criteria. Hum Reprod 2011;26:1616-24. https://doi.org/10.1093/humrep/der092
  14. Batiha O, Alahmad NA, Sindiani A, Bodoor K, Shaaban S, Al-Smadi M. Genetics of female infertility: molecular study of newborn ovary homeobox gene in poor ovarian responders. J Hum Reprod Sci 2019;12:85-91. https://doi.org/10.4103/jhrs.JHRS_112_18
  15. Uhlen M, Fagerberg L, Hallstrom BM, Lindskog C, Oksvold P, Mardinoglu A, et al. Proteomics: tissue-based map of the human proteome. Science 2015;347:1260419. https://doi.org/10.1126/science.1260419
  16. Greene AD, Patounakis G, Segars JH. Genetic associations with diminished ovarian reserve: a systematic review of the literature. J Assist Reprod Genet 2014;31:935-46. https://doi.org/10.1007/s10815-014-0257-5
  17. Altmae S, Hovatta O, Stavreus-Evers A, Salumets A. Genetic predictors of controlled ovarian hyperstimulation: where do we stand today? Hum Reprod Update 2011;17:813-28. https://doi.org/10.1093/humupd/dmr034
  18. Bretherick KL, Hanna CW, Currie LM, Fluker MR, Hammond GL, Robinson WP. Estrogen receptor alpha gene polymorphisms are associated with idiopathic premature ovarian failure. Fertil Steril 2008;89:318-24. https://doi.org/10.1016/j.fertnstert.2007.03.008
  19. Yoon SH, Choi YM, Hong MA, Lee GH, Kim JJ, Im HJ, et al. Estrogen receptor {alpha} gene polymorphisms in patients with idiopathic premature ovarian failure. Hum Reprod 2010;25:283-7. https://doi.org/10.1093/humrep/dep375
  20. Hu J, Wang J, Xiang H, Li Z, Wang B, Cao Y, et al. Association of polymorphisms in the estrogen receptor β (ESR2) with unexplained recurrent spontaneous abortion (URSA) in Chinese population. J Matern Fetal Neonatal Med 2012;25:1727-9. https://doi.org/10.3109/14767058.2012.663021
  21. Motawi TM, Rizk SM, Maurice NW, Maged AM, Raslan AN, Sawaf AH. The role of gene polymorphisms and AMH level in prediction of poor ovarian response in Egyptian women undergoing IVF procedure. J Assist Reprod Genet 2017;34:1659-66. https://doi.org/10.1007/s10815-017-1013-4
  22. Perez-Palma E, Gramm M, Nurnberg P, May P, Lal D. Simple ClinVar: an interactive web server to explore and retrieve gene and disease variants aggregated in ClinVar database. Nucleic Acids Res 2019;47:W99-105. https://doi.org/10.1093/nar/gkz411
  23. Trevisan CM, Peluso C, Cordts EB, de Oliveira R, Christofolini DM, Barbosa CP, et al. Ala307Thr and Asn680Ser polymorphisms of FSHR gene in human reproduction outcomes. Cell Physiol Biochem 2014;34:1527-35. https://doi.org/10.1159/000366356
  24. Landrum MJ, Lee JM, Riley GR, Jang W, Rubinstein WS, Church DM, et al. ClinVar: public archive of relationships among sequence variation and human phenotype. Nucleic Acids Res 2014;42:D980-5. https://doi.org/10.1093/nar/gkt1113
  25. Simoni M, Casarini L. Mechanisms in endocrinology: genetics of FSH action. A 2014-and-beyond view. Eur J Endocrinol 2014;170:R91-107. https://doi.org/10.1530/EJE-13-0624
  26. Kuijper EA, Blankenstein MA, Luttikhof LJ, Roek SJ, Overbeek A, Hompes PG, et al. Frequency distribution of polymorphisms in the FSH receptor gene in infertility patients of different ethnicity. Reprod Biomed Online 2011;22 Suppl 1:S60-5. https://doi.org/10.1016/S1472-6483(11)60010-2
  27. Sater MS, Magdoud K, Dendana M, Al-Ansari AK, Almawi WY. Leutinizing hormone/choriogonadotropin receptor and follicle stimulating hormone receptor gene variants and risk of recurrent pregnancy loss: a case control study. Meta Gene 2018;15:90-5. https://doi.org/10.1016/j.mgene.2017.12.005
  28. Hermann BP, Heckert LL. Transcriptional regulation of the FSH receptor: new perspectives. Mol Cell Endocrinol 2007;260-2:100-8. https://doi.org/10.1016/j.mce.2006.09.005
  29. Anagnostou E, Mavrogianni D, Theofanakis C, Drakakis P, Bletsa R, Demirol A, et al. ESR1, ESR2 and FSH receptor gene polymorphisms in combination: a useful genetic tool for the prediction of poor responders. Curr Pharm Biotechnol 2012;13:426-34. https://doi.org/10.2174/138920112799361891
  30. Yan Y, Gong Z, Zhang L, Li Y, Li X, Zhu L, et al. Association of follicle-stimulating hormone receptor polymorphisms with ovarian response in Chinese women: a prospective clinical study. PLoS One 2013;8:e78138. https://doi.org/10.1371/journal.pone.0078138
  31. Laven JS, Mulders AG, Suryandari DA, Gromoll J, Nieschlag E, Fauser BC, et al. Follicle-stimulating hormone receptor polymorphisms in women with normogonadotropic anovulatory infertility. Fertil Steril 2003;80:986-92. https://doi.org/10.1016/S0015-0282(03)01115-4
  32. Huang X, Li L, Hong L, Zhou W, Shi H, Zhang H, et al. The Ser680Asn polymorphism in the follicle-stimulating hormone receptor gene is associated with the ovarian response in controlled ovarian hyperstimulation. Clin Endocrinol (Oxf) 2015;82:577-83. https://doi.org/10.1111/cen.12573
  33. Hamamy H, Al-Hait S, Alwan A, Ajlouni K. Jordan: communities and community genetics. Community Genet 2007;10:52-60. https://doi.org/10.1159/000096282
  34. Allegra A, Marino A, Raimondo S, Maiorana A, Gullo S, Scaglione P, et al. The carriers of the A/G-G/G allelic combination of the c.2039 A > G and c.-29 G > A FSH receptor polymorphisms retrieve the highest number of oocytes in IVF/ICSI cycles. J Assist Reprod Genet 2017;34:263-73. https://doi.org/10.1007/s10815-016-0835-9
  35. Alviggi C, Conforti A, Caprio F, Gizzo S, Noventa M, Strina I, et al. In estimated good prognosis patients could unexpected "hyporesponse" to controlled ovarian stimulation be related to genetic polymorphisms of FSH receptor? Reprod Sci 2016;23:1103-8. https://doi.org/10.1177/1933719116630419
  36. Behre HM, Greb RR, Mempel A, Sonntag B, Kiesel L, Kaltwasser P, et al. 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. https://doi.org/10.1097/01.fpc.0000167330.92786.5e
  37. de Castro F, Ruiz R, Montoro L, Perez-Hernandez D, Sanchez-Casas Padilla E, Real LM, et al. Role of follicle-stimulating hormone receptor Ser680Asn polymorphism in the efficacy of follicle-stimulating hormone. Fertil Steril 2003;80:571-6. https://doi.org/10.1016/S0015-0282(03)00795-7
  38. Loutradis D, Patsoula E, Minas V, Koussidis GA, Antsaklis A, Michalas S, et al. FSH receptor gene polymorphisms have a role for different ovarian response to stimulation in patients entering IVF/ICSI-ET programs. J Assist Reprod Genet 2006;23:177-84. https://doi.org/10.1007/s10815-005-9015-z
  39. Jun JK, Yoon JS, Ku SY, Choi YM, Hwang KR, Park SY, et al. Follicle-stimulating hormone receptor gene polymorphism and ovarian responses to controlled ovarian hyperstimulation for IVF-ET. J Hum Genet 2006;51:665-70. https://doi.org/10.1007/s10038-006-0005-5
  40. Klinkert ER, te Velde ER, Weima S, van Zandvoort PM, Hanssen RG, Nilsson PR, et al. FSH receptor genotype is associated with pregnancy but not with ovarian response in IVF. Reprod Biomed Online 2006;13:687-95. https://doi.org/10.1016/S1472-6483(10)60660-8
  41. Mohiyiddeen L, Newman WG, Cerra C, Horne G, Mulugeta B, Byers H, et al. FSH receptor genotype does not predict metaphase-II oocyte output or fertilization rates in ICSI patients. Reprod Biomed Online 2013;27:305-9. https://doi.org/10.1016/j.rbmo.2013.06.005
  42. Lledo B, Guerrero J, Turienzo A, Ortiz JA, Morales R, Ten J, et al. Effect of follicle-stimulating hormone receptor N680S polymorphism on the efficacy of follicle-stimulating hormone stimulation on donor ovarian response. Pharmacogenet Genomics 2013; 23:262-8. https://doi.org/10.1097/FPC.0b013e32835fe813
  43. Karimian M, Colagar AH. Association of C677T transition of the human methylenetetrahydrofolate reductase (MTHFR) gene with male infertility. Reprod Fertil Dev 2016;28:785-94. https://doi.org/10.1071/RD14186

피인용 문헌

  1. Association between GnRH Receptor Polymorphisms and Luteinizing Hormone Levels for Low Ovarian Reserve Infertile Women vol.18, pp.13, 2021, https://doi.org/10.3390/ijerph18137006