Ala307Thr and Asn680Ser polymorphisms of FSHR gene in human reproduction outcomes

Cellular Physiology and Biochemistry

Volumn 34, Issue 5, 2014, Pages 1527-1535

  Trevisan, Camila Martins ^a   Peluso, Carla ^a   Cordts, Emerson Barchi ^a   De Oliveira, Renato ^a   Christofolini, Denise Maria ^a   Barbosa, Caio Parente ^a   Bianco, Bianca ^a  

^a FACULDADE DE MEDICINA DO ABC   (Brazil)

Author keywords

Assisted reproduction treatment; Controlled ovarian hyper stimulation; FSH receptor; Infertility; Polymorphisms

Indexed keywords

ESTRADIOL; FOLLITROPIN; FOLLITROPIN RECEPTOR;

ADULT; ARTICLE; BRAZILIAN; CORRELATIONAL STUDY; CROSS-SECTIONAL STUDY; DNA POLYMORPHISM; ESTRADIOL BLOOD LEVEL; FEMALE; FEMALE INFERTILITY; FOLLITROPIN BLOOD LEVEL; FSHR GENE; GENE; GENETIC VARIABILITY; GENOTYPE; HUMAN; INFERTILITY THERAPY; MAJOR CLINICAL STUDY; OOCYTE; OUTCOME ASSESSMENT; OVARY HYPERSTIMULATION; REAL TIME POLYMERASE CHAIN REACTION; REPRODUCTION; FERTILIZATION IN VITRO; GENE FREQUENCY; GENETICS; PROCEDURES; PROSPECTIVE STUDY; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; CROSS-SECTIONAL STUDIES; FEMALE; FERTILIZATION IN VITRO; GENE FREQUENCY; GENOTYPE; HUMANS; INFERTILITY, FEMALE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROSPECTIVE STUDIES; RECEPTORS, FSH; REPRODUCTION;

EID: 84908307310     PISSN: 10158987     EISSN: 14219778     Source Type: Journal    
DOI: 10.1159/000366356     Document Type: Article

References (46)

1. Pierce JG, Parsons TF: Glycoprotein hormones: structure and function. Annu Rev Biochem 1981;50:465-495.
2. Gu BH, Park JM, Baek KH: Genetic variations of follicle stimulating hormone receptor are associated with polycystic ovary syndrome. Int J Mol Med 2010;26:107-112.
3. Simoni M, Nieschlag E: FSH in therapy physiological basis, new preparations and clinical use. Reprod Med Rev 1995;4:163-167.
4. Themmen A, Huhtaniemi I: Mutations of gonadotropins and gonadotropin receptors: elucidating the physiology and pathophysiology of pituitary-gonadal function. Endrocr Rev 2000;21:551-583.
5. Ulloa-Aguirre A, Zariñan T, Pasapera A, Casas-González P, Dias J: Multiple facets of follicle-stimulating hormone receptor function. Endocrine 2007;32:251-263.
6. George J, Dille E, Heckert L: Current concepts of follicle-stimulating hormone receptor gene regulation. Biol Reprod 2011;84:7-17.
7. Lussiana C, Guani B, Mari C, Restagno G, Massobrio M, Revelli A: Mutations and polymorphisms of the FSH receptor (FSHR) gene: clinical implications in female fecundity and molecular biology of FSHR protein and gene. Obstet Gynecol Surv 2008;63:785-795.
8. Gromoll J, Dankbar B, Gudermann T: Characterization of the 5' flanking region of the human folliclestimulating hormone receptor gene. Mol Cell Endocrinol 1994;102:93-102.
9. Simoni M, Nieschlag E, Gromoll J: Isoforms and single nucleotide polymorphisms of the FSH receptor gene: implications for human reproduction. Human Reprod Update 2002;8:413-421.
10. Gromoll J, Pekel E, Nieschlag E: The Structure and Organization of the Human Follicle-Stimulating Hormone Receptor (FSHR) Gene. Genomics 1996;35:308-311.
11. Simoni M, Tempfer CB, Destenaves B, Fauser BC: Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response. Hum Reprod Update 2008;14:459-484.
12. Mohiyiddeen L, Nardo LG: Single-nucleotide polymorphisms in the FSH receptor gene and ovarian performance: future role in IVF. Hum Fertil 2010;13:72-78.
13. Grady R, Alavi N, Vale R, Khandwala M, McDonald SD. Elective single embryo transfer and perinatal outcomes: a systematic review and meta-analysis. Fertil Steril 2012;97:324-331.
14. Boudjenah R, Molina-Gomes D, Torre A, Bergere M, Bailly M, Boitrelle F, Taieb S, Wainer R, Benahmed M, de Mazancourt P, Selva J, Vialard F. Genetic polymorphisms influence the ovarian response to rFSH stimulation in patients undergoing in vitro fertilization programs with ICSI. Plos One 2012;7:38700.
15. Polyzos NP, Devroey P: A systematic review of randomized trials for the treatment of poor ovarian responders: is there any light at the end of the tunnel? Fertil Steril 2011;96:1058-1061.
16. Humaidan P, Quartarolo J, Papanikolaou E: Preventing ovarian Hyperstimulation syndrome: guidance for the clinician. Fertil Steril 2010;94:389-400.
17. Broekmans F, Kwee J, Hendriks D, Mol B, Lambalk C: A systematic review of tests predicting ovarian reserve and IVF outcome. Hum Reprod Update, 2006;12:685-718.
18. Frankfurt S, Nunes A, Reis A, Christofolini DM, Bianco B, Barbosa CP: Evaluation of basal FSH serum levels in infertile patients with deep ovarian endometriosis whose underwent surgery. Rev Bras Ginecol Obstet 2009;31:349-352.
19. Peluso C, Fonseca F, Rodart I, Cavalcanti V, Gastaldo G, Christofolini DM, Barbosa CP, Bianco B: AMH: an Ovarian Reserve Biomarker in Assisted Reproduction. Clin Chim Acta 2014;437C:175-182.
20. Perez Mayorga M, Gromoll J, Behre HM, Gassner C, Nieschlag E, Simoni M: Ovarian response to folliclestimulating hormone (FSH) stimulation depends on the FSH receptor genotype. J Clin Endocrinol Metab 2000;85:3365-3369.
21. Kene PS, Nalavadi VC, Dighe RR, Iyer KS, Mahale SD: Identification of the structural and functional determinants of the extracellular domain of the human follicle stimulating hormone receptor. J Endocrinol 2004;182:501-508.
22. Gromoll J, Simoni M: Follicle-stimulating-hormone receptor and twinning. Lancet 2001;357:230-231.
23. Jun. JK1, Yoon JS, Ku SY, Choi YM, Hwang KR, Park SY, Lee GH, Lee WD, Kim SH, Kim JG, Moon SY: Follicle-stimulating hormone receptor gene polymorphism and ovarian response to controlled ovarian Hyperstimulation for IVF-ET. J Hum Genet 2006;51:665-670.
24. Simoni M, Casarini L: Genetics of FSH action: a 2014-and-beyond view. Eur J Endocrinol. 2014;170:91-107.
25. Yan Y, Gong Z, Zhang L, Li Y, Li X, Zhu L, Sun L: Association of follicle-stimulating hormone receptor polymorphisms with ovarian response in Chinese women: a prospective clinical study. Plos One 2013;8:78138.
26. Zalewski G, Wolczynski S, Chyczewski L: Association of rs6166 polymorphism with FSH receptor transcript variants and steroid production in human granulosa cell cultures. Syst Biol Reprod Med 2013;59:191-198.
27. Hagen PC, Aksglaede L, Sørensen K, Mouritsen A, Mieritz MG, Main KM, Petersen JH Almstrup K, Meyts ER, Anderson RA, Juul A: FSHB-211 and FSHR 2039 are associated with serum levels of folliclestimulating hormone and antimüllerian hormone in healthy girls: a longitudinal cohort study. Fertil Steril 2013;100:1089-1095.
28. Binder H, Dittrich R, Hager I, Müller A, Oeser S, Beckmann MW, Hamori M, Fasching PA, Strick R.. Association of FSH receptor and CYP19A1 gene variations with sterility and ovarian hyperstimulation syndrome. Reproduction 2008;135:107-116.
29. La Marca A1, 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;99:970-978.
30. Casarini L, Moriondo V, Marino M, Adversi F, Capodanno F, Grisolia C, La Marca A, La Sala GB, Simoni M:. FSHR polymorphism p. N680S mediates different responses to FSH in vitro. Mol Cell Endocrinol 2014;393:83-91.
31. WHO: Manual for the standardized investigation and diagnosis of the infertile male, 2004: infertility: optimal evaluation of the infertile male, revised 2010;infertility: report on varicocele and infertility, 2010.
32. Barbosa CP, Cordts EB, Costa AC, de Oliveira R, de Mendonça MA, Christofolini DM, Bianco B: Low dose of rFSH [100IU] in controlled ovarian Hyperstimulation response: a pilot study. J Ovarian Res 2014;21:7-11.
33. Golan A, Ron-el R, Herman A, Soffer Y, Weinraub Z, Caspi E: Ovarian hyperstimulation syndrome: an update review. Obstet Gynecol Surv 1989;44:430-440.
34. Lahiri DK, Numberger JI: A rapid non-enzymatic method for preparation of HMW DNA from blood for RFLP studies. Nucleic Acids Res 1991;19:5444.
35. Achrekar SK, Modi DN, Desai SK, Mangoli VS, Mangoli RV, Mahale SD: Follicle-stimulating hormone receptor polymorphism (Thr307Ala) is associated with variable ovarian response and ovarian Hyperstimulation syndrome in Indian women. Fertil Steril 2009;91:432-439.
36. Mohiyiddeen L1, Salim S, Mulugeta B, McBurney H, Newman WG, Pemberton P, Nardo LG: Folliclestimulating hormone receptor gene polymorphisms are not associated with ovarian reserve markers. Fertil Steril 2012;97:677-681.
37. Sudo S, Kudo M, Wada S, Sato O, Hsueh A J W, Fujimoto S: Genetic and functional analyses of polymorphisms in the human FSH receptor gene. Mol Hum Reprod 2002;8:893-899.
38. Nordhoff V1, Sonntag B, von Tils D, Götte M, Schüring AN, Gromoll J, Redmann K, Casarini L, Simoni M: Effects of the FSH receptor gene polymorphism p. N680S on cAMP and steroid production in cultured primary human granulosa cells. Reprod Biomed Online 2011;23:196-203.
39. Lalioti MD: Impact of follicle stimulating hormone receptor variants in fertility. Curr Opin Obstet Gynecol 2011;23:158-167.
40. Greb RR, Grieshaber K, Gromoll J, Sonntag B, Nieschlag E, Kiesel L, Simoni M: A Common Single Nucleotide Polymorphism in Exon 10 of the Human Follicle Stimulating Hormone Receptor Is a Major Determinant of Length and Hormonal Dynamics of the Menstrual Cycle. J Clin Endocrinol Metab 2005;90:4866-4872.
41. Yao Y, Ma C, Tang H, Hu Y: Influence of follicle-stimulating hormone receptor (FSHR) Ser680Asn polymorphism on ovarian function and in-vitro fertilization outcome: A meta-analysis. Mol Genetd Metab 2011;103:388-393.
42. Lledo B1, Guerrero J, Turienzo A, Ortiz JA, Morales R, Ten J, Llacer J, Bernabeu R: Effect of folliclestimulating hormone receptor N680S polymorphism on the efficacy of follicle-stimulating hormone stimulation on donor ovarian response. Pharmacogenet Genomics 2013;23:262-268.
43. Loutradis D, Vlismas A, Drakakis P, Antsaklis A: Pharmacogenetics in Ovarian Stimulation-Current Concepts. Ann NY Acad Sci 2008;1127:10-19.
44. Mohiyiddeen L, Newman WG, Cerra C, Horne G, Mulugeta B, Byers H, Roberts SA, Nardo LG: FSH receptor genotype does not predict metaphase-II oocyte output or fertilization rates in ICSI patients. Reprod Biomed Online 2013;27:305-309.
45. Sheikhha MH, Eftekhar M, Kalantar SM: Investigating the association between polymorphism of folliclestimulating hormon e receptor gene and ovarian response in controlled ovarian hyperstimulation. J Hum Reprod Sci 2011;4:86-90.
46. Klinkert ER, Velde ER, Weima S, Zandvoort PM, Hanssen RG, Nilsson PR, Jong FH, Looman CW, Broekmans FJ: FSH receptor genotype is associated with pregnancy but not with ovarian response in IVF. Reprod Biomed Online 2006;13:687-95.