Single-nucleotide polymorphisms in the FSH receptor gene and ovarian performance: Future role in IVF

Human Fertility

Volumn 13, Issue 2, 2010, Pages 72-78

  Mohiyiddeen, Lamiya ^a   Nardo, Luciano G ^a  

^a ST MARY S HOSPITAL   (United Kingdom)

Author keywords

FSH; FSH receptor gene; FSH receptor mutations; FSH receptor polymorphisms; IVF; ovarian response; Single nucleotide polymorphism

Indexed keywords

ALANINE; ASPARAGINE; FOLLITROPIN; FOLLITROPIN RECEPTOR; SERINE; THREONINE;

AMINO ACID SEQUENCE; ARTICLE; EXON; FERTILIZATION IN VITRO; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; GENETIC SCREENING; GENETIC VARIABILITY; HORMONAL REGULATION; HUMAN; MATHEMATICAL MODEL; OVARY; OVULATION; PREDICTIVE VALIDITY; RECEPTOR GENE; SINGLE NUCLEOTIDE POLYMORPHISM;

FEMALE; FERTILIZATION IN VITRO; FOLLICLE STIMULATING HORMONE; GENOTYPE; HUMANS; OVARY; OVULATION INDUCTION; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, FSH;

EID: 77955937772     PISSN: 14647273     EISSN: 17428149     Source Type: Journal    
DOI: 10.3109/14647271003632322     Document Type: Article

References (50)

1. Achrekar, S. K., Modi, D. N., Desai, S. K., Mangoli, V. S., Mangoli, R. V., & Mahale, S. D. (2008). Follicle-stimulating hormone receptor polymorphism (Thr(307)Ala) is associated with variable ovarian response and ovarian hyperstimulation syndrome in Indian women. Fertility & Sterility, 91, 432-439.
2. Aittomaki, K., Lucena, J. L., Pakarinen, P., Sistonen, P., Tapanainen, J., Gromoll, J., et al. (1995). Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. Cell, 82, 959-968.
3. Al-Hendy, A., Moshynska, O., Saxena, A., & Feyles, V. (2001). Follicle-stimulating-hormone receptor and twinning. Lancet, 357, 231-232.
4. Behre, H. M., Greb, R. R., Mempel, A., Sonntag, B., Kiesel, L., Kaltwasser, P., et al. (2005). 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. Pharmacogenetics and Genomics, 15, 451-456.
5. Broekmans, F. J., Kwee, J., Hendriks, D. J., Mol, B. W., & Lambalk, C. B. (2006). A systematic review of tests predicting ovarian reserve and IVF outcome. Human Reproduction Update, 12, 685-718.
6. Conway, G. S., Conway, E., Walker, C., Hoppner, W., Gromoll, J., & Simoni, M. (1999). Mutation screening and isoform prevalence of the follicle stimulating hormone receptor gene in women with premature ovarian failure, resistant ovary syndrome and polycystic ovary syndrome. Clinical Endocrinology, 51, 97-99.
7. Costagliola, S., Urizar, E., Mendive, F., & Vassart, G. (2005). Specificity and promiscuity of gonadotropin receptors. Reproduction, 130, 275-281.
8. Crepieux, P., Marion, S., Martinat, N., Fafeur, V., Vern Y. L., Kerboeuf, D., et al. (2001) The ERK-dependent signalling is stage-specifically modulated by FSH, during primary Sertoli cell maturation. Oncogene, 20, 4696-4709.
9. Daelemans, C., Smits, G., de Maertelaer, V., Costagliola, S., Englert, Y., Vassart, G., et al. (2004). Prediction of severity of symptoms in iatrogenic ovarian hyperstimulation syndrome by follicle-stimulating hormone receptor Ser680Asn polymorphism. Journal of Clinical Endocrinology & Metabolism, 89, 6310-6315.
10. de Castro, F., Ruiz, R., Montoro, L., Perez-Hernandez, D., Sanchez-Casas Padilla, E., Real L. M., et al. (2003). Role of follicle-stimulating hormone receptor Ser680Asn polymorphism in the efficacy of follicle-stimulating hormone. Fertility & Sterility, 80, 571-576.
11. de Castro, F., Moron, F. J., Galan, J. J., Perez-Hernandez, D., Sanchez-Casas Padilla, E., Ramirez-Lorca, R., et al. (2004). Human controlled ovarian hyperstimulation is a polygenic trait. Pharmacogenetics, 14, 285-293.
12. de Koning, C. H., Benjamins, T., Harms, P., Homburg, R., van Montfrans, J. M., Gromoll, J., et al. (2006). The distribution of FSH receptor isoforms is related to basal FSH levels in subfertile women with normal menstrual cycles. Human Reproduction, 21, 443-446.
13. De Leener, A., Montanelli, L., Van Durme, J., Chae, H., Smits, G., Vassart, G., et al. (2006). Presence and absence of folliclestimulating hormone receptor mutations provide some insights into spontaneous ovarian hyperstimulation syndrome physiopathology. Journal of Clinical Endocrinology and Metabolism, 91, 555-562.
14. Derom, C., Groenen, P., & Vlietinck, R. (2001). Folliclestimulating- hormone receptor and twinning. Lancet, 357, 230-231; author reply 231-232.
15. Develioglu, O. H., Cox, B., Toner, J. P., Oehninger, S., & Muasher, S. J. (1999). The value of basal serum follicle stimulating hormone, luteinizing hormone and oestradiol concentrations following pituitary down-regulation in predicting ovarian response to stimulation with highly purified follicle stimulating hormone. Human Reproduction, 14, 1168-1174.
16. Falconer, H., Andersson, E., Aanesen, A., & Fried, G. (2005). Follicle-stimulating hormone receptor polymorphisms in a population of infertile women. Acta Obstetricia et Gynecologica Scandinavica, 84, 806-811.
17. Fauser, B.C.J.M., Diedrich, K., & Devroey, P., on behalf of the Evian Annual Reproduction(EVAR) Workshop Group 2007. (2008). Predictors of ovarian response: progress towards individualized treatment in ovulation induction and ovarian stimulation. Human Reproduction Update, 14, 1-14.
18. Gorczynska, E., Spaliviero, J., & Handelsman, D. J. (1994). The relationship between 3',50-cyclic adenosine monophosphate and calcium in mediating follicle-stimulating hormone signal transduction in Sertoli cells. Endocrinology, 134, 293-300.
19. Greb, R. R., Grieshaber, K, Gromoll, J., Sonntag, B., Nieschlag, E., Kiesal, L., et al. (2005). 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 cylce. Journal of Clinical Endocrinology & Metabolism, 90, 4866-4872.
20. Gremelich, S., Fratta, S., Rebellato, E., Uras, R., Reymondin, D., Damnon, M., et al. (2008). Interleukin-1 receptor antagonist gene(IL-1RN) polymorphism is a predictive factor of clinical pregnancy after IVF. Human Reproduction, 23, 1200-1206.
21. Gromoll, J., Simoni, M., & Nieschlag, E. (1996). An activating mutation of the follicle-stimulating hormone receptor autonomously sustains spermatogenesis in a hypophysectomized man. Journal of Clinical Endocrinology & Metabolism, 81, 1367-1370.
22. Hasbargen, U., Thaler, C. J., Ruebsamen, H., Fuchshuber, S., & Lohse, P. (2001). S680N substitution of the follicle-stimulating hormone receptor is a common polymorphism not associated with spontaneous human twinning. European Journal of Medical Research, 6, 315-316.
23. Jiang, M., Aittomaki, K., Nilsson, C., Pakarinen, P., Iitia, A., Torresani, T., et al. (1998). The frequency of an inactivating point mutation (566C-4T) of the human follicle-stimulating hormone receptor gene in four populations using allelespecific hybridization and time-resolved fluorometry. Journal of Clinical Endocrinology & Metabolism, 83, 4338-4343.
24. Jun, J. K., Yoon, J. S., Seung-Yup, K., Choi, Y. M., Hwang, K. R., Park, S. Y., et al. (2006). Follicle-stimulating hormone receptor gene polymorphism and ovarian responses to controlled ovarian hyperstimulation for IVF-ET. Journal of Human Genetics, 51, 665-670.
25. Kevenaar, M. E., Themmen, A. P. N., Laven, J. S. E., Sonntag, B., Lie Fong, S., Uitterlinden, A. G., et al. (2007) Anti-Mullerian hormone and anti-Mullerian hormone type II receptor polymorphisms are associated with follicular phase estradiol levels in normo-ovulatory women. Human Reproduction, 22, 1547-1554.
26. Klinkert, E. R., te Velde, E. R., Weima, S., van Zandvoort, P. M., Hanssen, R. G., Nilsson, P. R., et al. (2006). FSH receptor genotype is associated with pregnancy but not with ovarian response in IVF. Reproducitve Biomedicine Online, 13, 687-695.
27. La Marca, A., Giulini, S., Tirelli, A., Bertucci, E., Marsella, T., Xella, S., et al. (2007). Anti-Mullerian hormone measurement on any day of the menstrual cycle strongly predicts ovarian response in assisted reproductive technology. Human Reproduction, 22, 766-771.
28. Laven, J. S., Mulders, A. G., Suryandari, D. A., Gromoll, J., Nieschlag, E., Fauser, B. C., et al. (2003). Follicle-stimulating hormone receptor polymorphisms in women with normogonadotropic anovulatory infertility. Fertility & Sterility, 80, 986-992.
29. Loutradis, D., Elsheikh, A., Kallianidis, K., Drakakis, P., Stefanidis, K., Milingos, S., et al. (2004). Results of controlled ovarian stimulation for ART in poor responders according to the short protocol using different gonadotrophins combinations. Archives of Gynecology and Obstetrics, 270, 223-226.
30. Loutradis, D., Patsoula, E., Minas, V., Koussidis, G. A., Antsaklis, A., Michalas, S., et al. (2006). FSH receptor gene polymorphisms have a role for different ovarian response to stimulation in patients entering IVF/ICSI-ET programs. Journal of Assisted Reproduction & Genetics, 23, 177-184.
31. Loutradis, D., Vlismas, A., Drakakis, P., & Antsaklis, A. (2008). Pharmacogenetics in ovarian stimulation-current concepts. Annals of New York Academy of Sciences, 1127, 10-19.
32. Meduri, G., Touraine, P., Beau, I., Lahuna, O., Desroches, A., Vacher-Lavenu, M. C., et al. (2003). Delayed puberty and primary amenorrhea associated with a novel mutation of the human follicle-stimulating hormone receptor: clinical, histological, and molecular studies. Journal of Clinical Endocrinology and Metabolism, 88, 3491-3498.
33. Meduri, G., Bachelot, A., Cocca, M. P., Vassear, C., Rodien, P., Kuttenn, F., et al. (2008). Molecular pathology of the FSH receptor: new insights into FSH physiology. Molecular Cellular Endocrinology, 282, 130-142.
34. Muttukrishna, S., McGarrigle, H., Wakim, R., Khadum, I., Ranieri, D. M., & Serhal, P. (2005). Antral follicle count, antimullerian hormone and inhibin B: predictors of ovarian response in assisted reproductive technology? British Journal of Obstetrics and Gynaecology, 112, 1384-1390.
35. Nardo, L. G., Gelbaya, T. A., Wilkinson, H., Roberts, S. A., Yates, A., Pemberton, P., et al. (2009). Circulating basal anti-Müllerian hormone levels as predictor of ovarian response in women undergoing ovarian stimulation for in vitro fertilization. Fertility & Sterility, 92, 1586-1593.
36. Nelson, S. M., Yates, R. W., & Fleming, R. (2007). Serum anti-Mullerian hormone and FSH: prediction of live birth and extremes of response in stimulated cycles - implications for individualization of therapy. Human Reproduction, 22, 2414-2421.
37. Overbeek, A., Kuijper, E. A. M., Hendriks, M. L., Blankenstein, M. A., Ketel, I. J. G., Twisk, J. W. R., et al. (2009). Clomiphene citrate resistance in relation to follicle-stimulating hormone receptor Ser680Ser-polymorphism in polycystic ovary syndrome. Human Reproduction, 24, 2007-2013.
38. Perez Mayorga, M., Gromoll, J., Behre, H. M., Gassner, C., Nieschlag, E., & Simoni, M. (2000). Ovarian response to follicle-stimulating hormone (FSH) stimulation depends on the FSH receptor genotype. Journal of Clinical Endocrinology & Metabolism, 85, 3365-3369.
39. Rannikko, A., Pakarinen, P., Manna, P. R., Beau, I., Misrahi, M., Aittomaki, K., et al. (2002). Functional characterization of the human FSH receptor with an inactivating Ala189Val mutation. Molecular Human Reproduction, 8, 311-317.
40. Rousseau-Merck, M. F., Atger, M., Loosfelt, H., Milgrom, E., & Berger, R. (1993). The chromosomal localization of the human follicle-stimulating hormone receptor gene (FSHR) on 2p21-p16 is similar to that of the luteinizing hormone receptor gene. Genomics, 15, 222-224.
41. Ryan, G. L., Feng, X., d'Alva, C. B., Zhang, M., Van Voorhis, B. J., Pinto, E. M., et al. (2007). Evaluating the roles of folliclestimulating hormone receptor polymorphisms in gonadal hyperstimulation associated with severe juvenile primary hypothyroidism. Journal of Clinical Endocrinology & Metabolism, 92, 2312-2317.
42. Simoni, M., Gromoll, J., & Nieschlag, E. (1997). The folliclestimulating hormone receptor: biochemistry, molecular biology, physiology, and pathophysiology. Endocrine Review, 18, 739-773.
43. Simoni, M., Gromoll, J., Höppner, W., Kamischke, A., Krafft, T., Stähle, D., et al. (1999). Mutational analysis of the folliclestimulating hormone (FSH) receptor in normal and infertile men: identification and characterization of two discrete FSH receptor isoforms. Journal of Clinical Endocrinology and Metabolism, 84, 751-755.
44. Simoni, M., Nieschlag, E., & Gromoll, J. (2002). Isoforms and single nucleotide polymorphisms of the FSH receptor gene: implications for human reproduction. Human Reproduction Update, 8, 413-421.
45. Sudo, S., Kudo, M., Wada, S., Sato, O., Hsueh, A. J., & Fujimoto, S. (2002). Genetic and functional analyses of polymorphisms in the human FSH receptor gene. Molecular Human Reproduction, 8, 893-899.
46. Sundblad, V., Chiauzzi, V. A., Escobar, M. E., Dain, L., & Charreau, E. H. (2004). Screening of FSH receptor gene in Argentine women with premature ovarian failure. Molecular and Cellular Endocrinology, 222, 53-59.
47. Tena-Sempere, M., Manna, P. R., & Huhtaniemi, I. (1999). Molecular cloning of the mouse follicle-stimulating hormone receptor complementary deoxyribonucleic acid: functional expression of alternatively spliced variants and receptor inactivation by a C566T transition in exon 7 of the coding sequence. Biology of Reproduction, 60, 1515-1527.
48. Themmen, A. P., Martens, J. W., & Brunner, H. G. (1997). Gonadotropin receptor mutations. Journal of Endocrinology, 153, 179-183.
49. Wunder, D. M., Guibourdenche, J., Birkhauser, M. H., & Bersinger, N. A. (2008). Anti-Mullerian hormone and inhibin B as predictors of pregnancy after treatment by in vitro fertilization/intracytoplasmic sperm injection. Fertility & Sterility, 90, 2203-2210.
50. Zeleznik, A. J., Saxena, D., & Little-Ihrig, L. (2003). Protein kinase B is obligatory for follicle-stimulating hormone-induced granulosa cell differentiation. Endocrinology, 144, 3985-3994.