Genetic predictors of controlled ovarian hyperstimulation: Where do we stand today?

Human Reproduction Update

Volumn 17, Issue 6, 2011, Pages 813-828

  Altmae S ^a,b   Hovatta, O ^a   Stavreus Evers, A ^c   Salumets, A ^b,d  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^b Competence Centre on Reproductive Medicine and Biology ^*  (Estonia)

^c UPPSALA UNIVERSITY   (Sweden)

^d UNIVERSITY OF TARTU   (Estonia)

Author keywords

Controlled ovarian hyperstimulation; Genetic variation; In vitro fertilization; Pharmacogenetics; Polymorphism

Indexed keywords

AROMATASE; CHOLESTEROL MONOOXYGENASE (SIDE CHAIN CLEAVING); ESTROGEN RECEPTOR; FOLIC ACID; FOLLITROPIN; FOLLITROPIN RECEPTOR; GONADOTROPIN; GROWTH DIFFERENTIATION FACTOR 9; LUTEINIZING HORMONE BETA SUBUNIT; MANGANESE SUPEROXIDE DISMUTASE; MUELLERIAN INHIBITING FACTOR; PROGESTERONE RECEPTOR; SEX HORMONE BINDING GLOBULIN; TRANSFORMING GROWTH FACTOR BETA;

ALLELE; ANDROGEN SYNTHESIS; ARTICLE; CELL PROLIFERATION; ESTROGEN SYNTHESIS; FERTILIZATION IN VITRO; FOLATE METABOLISM; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC MARKER; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GENOTYPE; HUMAN; INTRACYTOPLASMIC SPERM INJECTION; LUTEINIZATION; NONHUMAN; OOCYTE MATURATION; OVARIAN RESERVE; OVARY FOLLICLE DEVELOPMENT; OVARY FUNCTION; OVARY HYPERSTIMULATION; PATHOGENESIS; PREGNANCY RATE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; STEROIDOGENESIS;

AROMATASE; CHOLESTEROL SIDE-CHAIN CLEAVAGE ENZYME; FEMALE; FERTILIZATION IN VITRO; FOLIC ACID; GENETIC MARKERS; GENOME-WIDE ASSOCIATION STUDY; HUMANS; INFERTILITY, FEMALE; LUTEINIZING HORMONE, BETA SUBUNIT; METABOLIC NETWORKS AND PATHWAYS; OVULATION INDUCTION; PHARMACOGENETICS; POLYMORPHISM, GENETIC; PREGNANCY; RECEPTORS, ESTROGEN; RECEPTORS, FSH; RECEPTORS, LH; RECEPTORS, PROGESTERONE; TRANSFORMING GROWTH FACTOR BETA;

EID: 80054686363     PISSN: 13554786     EISSN: 14602369     Source Type: Journal    
DOI: 10.1093/humupd/dmr034     Document Type: Article

References (155)

1. Aaltonen J, Laitinen MP, Vuojolainen K, Jaatinen R, Horelli-Kuitunen N, Seppa L, Louhio H, Tuuri T, Sjoberg J, Butzow R. et al. Human growth differentiation factor 9 (GDF-9) and its novel homolog GDF-9B are expressed in oocytes during early folliculogenesis. J Clin Endocrinol Metab 1999;84: 2744-2750.
2. 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 2009a;91:432-439.
3. Achrekar SK, Modi DN, Desai SK, Mangoli VS, Mangoli RV, Mahale SD. Poor ovarian response to gonadotrophin stimulation is associated with FSH receptor polymorphism. Reprod Biomed Online 2009b;18:509-515.
4. Alfirevic A, Alfirevic Z, Pirmohamed M. Pharmacogenetics in reproductive and perinatal medicine. Pharmacogenomics 2010;11:65-79.
5. Altmäe S, Salumets A. A novel genomic diagnostic tool for sperm quality? Reprod Biomed Online 2011;22:405-407.
6. Altmäe S, Haller K, Peters M, Hovatta O, Stavreus-Evers A, Karro H, Metspalu A, Salumets A. Allelic estrogen receptor 1 (ESR1) gene variants predict the outcome of ovarian stimulation in in vitro fertilization. Mol Hum Reprod 2007; 13:521-526.
7. Altmäe S, Haller K, Peters M, Saare M, Hovatta O, Stavreus-Evers A, Velthut A, Karro H, Metspalu A, Salumets A. Aromatase gene (CYP19A1) variants, female infertility and ovarian stimulation outcome: a preliminary report. Reprod Biomed Online 2009;18:651-657.
8. Altmäe S, Stavreus-Evers A, Ruiz JR, Laanpere M, Syvanen T, Yngve A, Salumets A, Nilsson TK. Variations in folate pathway genes are associated with unexplained female infertility. Fertil Steril 2010;94:130-137.
9. Alviggi C, Clarizia R, Coppola M, De Rosa G, De Biasio K, Pettersson K, De Placido G, Humaidan P. A common LH polymorphism is associated with higher FSH consumption during ovarian stimulation for IVF/CSI cycles. Int J Gynecol Obstet 2009a;107S2:S105.
10. Alviggi C, Clarizia R, Pettersson K, Mollo A, Humaidan P, Strina I, Coppola M, Ranieri A, D'Uva M, De Placido G. Suboptimal response to GnRHa long protocol is associated with a common LH polymorphism. Reprod Biomed Online 2009b;18:9-14.
11. Aurrekoetxea I, Ruiz-Sanz JI, del Agua AR, Navarro R, Hernandez ML, Matorras R, Prieto B, Ruiz-Larrea MB. Serum oxidizability and antioxidant status in patients undergoing in vitro fertilization. Fertil Steril 2010;94:1279-1286.
12. Ayvaz OU, Ekmekci A, Baltaci V, Onen HI, Unsal E. Evaluation of in vitro fertilization parameters and estrogen receptor alpha gene polymorphisms for women with unexplained infertility. J Assist Reprod Genet 2009;26:503-510.
13. Baghaei F, Rosmond R, Westberg L, Hellstrand M, Eriksson E, Holm G, Bjorntorp P. The CYP19 gene and associations with androgens and abdominal obesity in premenopausal women. Obes Res 2003;11:578-585.
14. Behre HM, Greb RR, Mempel A, Sonntag B, Kiesel L, Kaltwasser P, Seliger E, Ropke F, Gromoll J, Nieschlag E. 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; 15:451-456.
15. Berger K, Billerbeck AE, Costa EM, Carvalho LS, Arnhold IJ, Mendonca BB. Frequency of the allelic variant (Trp8Arg/Ile15Thr) of the luteinizing hormone gene in a Brazilian cohort of healthy subjects and in patients with hypogonadotropic hypogonadism. Clinics (Sao Paulo) 2005;60:461-464.
16. Berker B, Kaya C, Aytac R, Satiroglu H. Homocysteine concentrations in follicular fluid are associated with poor oocyte and embryo qualities in polycystic ovary syndrome patients undergoing assisted reproduction. Hum Reprod 2009; 24:2293-2302.
17. Bertrand J, Treluyer JM, Panhard X, Tran A, Auleley S, Rey E, Salmon-Ceron D, Duval X, Mentre F. Influence of pharmacogenetics on indinavir disposition and short-term response in HIV patients initiating HAART. Eur J Clin Pharmacol 2009;65:667-678.
18. Beyer W, Imlay J, Fridovich I. Superoxide dismutases. Prog Nucleic Acid Res Mol Biol 1991;40:221-253.
19. Binder H, Dittrich R, Hager I, Muller 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.
20. Blount BC, Mack MM, Wehr CM, MacGregor JT, Hiatt RA, Wang G, Wickramasinghe SN, Everson RB, Ames BN. Folate deficiency causes uracil misincorporation into human DNA and chromosome breakage: implications for cancer and neuronal damage. Proc Natl Acad Sci USA 1997;94:3290-3295.
21. Boxmeer JC, Macklon NS, Lindemans J, Beckers NG, Eijkemans MJ, Laven JS, Steegers EA, Steegers-Theunissen RP. IVF outcomes are associated with biomarkers of the homocysteine pathway in monofollicular fluid. Hum Reprod 2009;24:1059-1066.
22. Britt KL, Findlay JK. Estrogen actions in the ovary revisited. J Endocrinol 2002; 175:269-276.
23. Byun E, Caillier SJ, Montalban X, Villoslada P, Fernandez O, Brassat D, Comabella M, Wang J, Barcellos LF, Baranzini SE. et al. Genome-wide pharmacogenomic analysis of the response to interferon beta therapy in multiple sclerosis. Arch Neurol 2008; 65:337-344.
24. Cai J, Lou HY, Dong MY, Lu XE, Zhu YM, Gao HJ, Huang HF. Poor ovarian response to gonadotropin stimulation is associated with low expression of follicle-stimulating hormone receptor in granulosa cells. Fertil Steril 2007;87:1350-1356.
25. Choi YM, Yoon JS, Hwang KR, Kim SH, Lee WD, Moon SY. Follicle-stimulating hormone receptor polymorphism and ovarian responses to controlled ovarian hyperstimulation for IVF-ET. Fertil Steril 2004;P-204:S206-S207.
26. Choi YS, Kim SH, Ku SY, Jee BC, Suh CS, Choi YM, Kim JG, Moon SY. Efficacy of ER-alpha polymorphisms and the intrafollicular IGF system for predicting pregnancy in IVF-ET patients. Gynecol Obstet Invest 2009;67:73-80.
27. Coccia ME, Rizzello F. Ovarian reserve. Ann N Y Acad Sci 2008;1127:27-30.
28. Cramer DW, Hornstein MD, McShane P, Powers RD, Lescault PJ, Vitonis AF, De Vivo I. Human progesterone receptor polymorphisms and implantation failure during in vitro fertilization. Am J Obstet Gynecol 2003;189:1085-92.
29. d'Alva CB, Serafini P, Motta E, Kohek MB, Latronico AC, Mendonca BB. Absence of follicle-stimulating hormone receptor activating mutations in women with iatrogenic ovarian hyperstimulation syndrome. Fertil Steril 2005;83:1695-1699.
30. Daelemans C, Smits G, de Maertelaer V, Costagliola S, Englert Y, Vassart G, Delbaere A. Prediction of severity of symptoms in iatrogenic ovarian hyperstimulation syndrome by follicle-stimulating hormone receptor Ser680Asn polymorphism. J Clin Endocrinol Metab 2004;89:6310-6315.
31. de Castro F, Ruiz R, Montoro L, Perez-Hernandez D, Sanchez-Casas Padilla E, Real LM, Ruiz A. Role of follicle-stimulating hormone receptor Ser680Asn polymorphism in the efficacy of follicle-stimulating hormone. Fertil Steril 2003; 80:571-576.
32. de Castro F, Moron FJ, Montoro L, Galan JJ, Hernandez DP, Padilla ES, Ramirez-Lorca R, Real LM, Ruiz A. Human controlled ovarian hyperstimulation outcome is a polygenic trait. Pharmacogenetics 2004;14:285-293.
33. de Castro F, Moron FJ, Montoro L, Real LM, Ruiz A. Pharmacogenetics of controlled ovarian hyperstimulation. Pharmacogenomics 2005;6:629-637.
34. De Castro F, Moron FJ, Montoro L, Galan JJ, Real LM, Ruiz A. Re: Polymorphisms associated with circulating sex hormone levels in postmenopausal women. J Natl Cancer Inst 2005;97:152-153. author reply 153-154.
35. De Placido G, Alviggi C, Mollo A, Strina I, Ranieri A, Alviggi E, Wilding M, Varricchio MT, Borrelli AL, Conforti S. Effects of recombinant LH (rLH) supplementation during controlled ovarian hyperstimulation (COH) in normogonadotrophic women with an initial inadequate response to recombinant FSH (rFSH) after pituitary downregulation. Clin Endocrinol (Oxf) 2004;60:637-643.
36. De Vivo I, Huggins GS, Hankinson SE, Lescault PJ, Boezen M, Colditz GA, Hunter DJ. A functional polymorphism in the promoter of the progesterone receptor gene associated with endometrial cancer risk. Proc Natl Acad Sci USA 2002;99:12263-12268.
37. Diaz-Gimeno P, Horcajadas JA, Martinez-Conejero JA, Esteban FJ, Alama P, Pellicer A, Simon C. A genomic diagnostic tool for human endometrial receptivity based on the transcriptomic signature. Fertil Steril 2011;95:50-60. 60e1-15.
38. Drummond AE. The role of steroids in follicular growth. Reprod Biol Endocrinol 2006; 4:16.
39. Dulitzky M, Cohen SB, Inbal A, Seidman DS, Soriano D, Lidor A, Mashiach S, Rabinovici J. Increased prevalence of thrombophilia among women with severe ovarian hyperstimulation syndrome. Fertil Steril 2002;77:463-467.
40. Durlinger AL, Kramer P, Karels B, de Jong FH, Uilenbroek JT, Grootegoed JA, Themmen AP. Control of primordial follicle recruitment by anti-Mullerian hormone in the mouse ovary. Endocrinology 1999;140:5789-5796.
41. Ebisch IM, Peters WH, Thomas CM, Wetzels AM, Peer PG, Steegers-Theunissen RP. Homocysteine, glutathione and related thiols affect fertility parameters in the (sub)fertile couple. Hum Reprod 2006;21:1725-1733.
42. Fauser BC, Diedrich K, Devroey P. Predictors of ovarian response: progress towards individualized treatment in ovulation induction and ovarian stimulation. Hum Reprod Update 2008;14:1-14.
43. Ferk P, Gersak K, Teran N. No association between the microsatellite polymorphism (TTTTA)n in the promoter of the CYP11A gene and ovarian hyperstimulation syndrome. J Assist Reprod Genet 2006;23:29-32.
44. Ferk P, Teran N, Gersak K. The (TAAAA)n microsatellite polymorphism in the SHBG gene influences serum SHBG levels in women with polycystic ovary syndrome. Hum Reprod 2007;22:1031-1036.
45. Fohr IP, Prinz-Langenohl R, Bronstrup A, Bohlmann AM, Nau H, Berthold HK, Pietrzik K. 5,10-Methylenetetrahydrofolate reductase genotype determines the plasma homocysteine-lowering effect of supplementation with 5-methylte trahydrofolate or folic acid in healthy young women. Am J Clin Nutr 2002;75: 275-282.
46. Forges T, Gerard A, Hess K, Monnier-Barbarino P, Gerard H. Expression of sex hormone-binding globulin (SHBG) in human granulosa-lutein cells. Mol Cell Endocrinol 2004;219:61-68.
47. Forges T, Gerard A, Monnier-Barbarino P, Gerard H. Immunolocalization of sex hormone-binding globulin (SHBG) in human ovarian follicles and corpus luteum. Histochem Cell Biol 2005;124:285-290.
48. Forges T, Monnier-Barbarino P, Alberto JM, Gueant-Rodriguez RM, Daval JL, Gueant JL. Impact of folate and homocysteine metabolism on human reproductive health. Hum Reprod Update 2007;13:225-238.
49. Freour T, Masson D, Mirallie S, Jean M, Bach K, Dejoie T, Barriere P. Active smoking compromises IVF outcome and affects ovarian reserve. Reprod Biomed Online 2008;16:96-102.
50. Friso S, Choi SW, Girelli D, Mason JB, Dolnikowski GG, Bagley PJ, Olivieri O, Jacques PF, Rosenberg IH, Corrocher R. et al. A common mutation in the 5,10-methylenetetrahydrofolate reductase gene affects genomic DNA methylation through an interaction with folate status. Proc Natl Acad Sci USA 2002;99:5606-5611.
51. Frosst P, Blom HJ, Milos R, Goyette P, Sheppard CA, Matthews RG, Boers GJ, den Heijer M, Kluijtmans LA, van den Heuvel LP. et al. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat Genet 1995;10:111-113.
52. Furui K, Suganuma N, Tsukahara S, Asada Y, Kikkawa F, Tanaka M, Ozawa T, Tomoda Y. Identification of two point mutations in the gene coding luteinizing hormone (LH) beta-subunit, associated with immunologically anomalous LH variants. J Clin Endocrinol Metab 1994;78:107-113.
53. Gearhart J, Coutifaris C. In vitro fertilization, the Nobel Prize, and human embryonic stem cells. Cell Stem Cell 2011;8:12-15.
54. Gemmell NJ, Slate J. Heterozygote advantage for fecundity. PLoS One 2006;1:e125.
55. George L, Mills JL, Johansson AL, Nordmark A, Olander B, Granath F, Cnattingius S. Plasma folate levels and risk of spontaneous abortion. J Am Med Assoc 2002; 288:1867-1873.
56. Georgiou I, Konstantelli M, Syrrou M, Messinis IE, Lolis DE. Oestrogen receptor gene polymorphisms and ovarian stimulation for in-vitro fertilization. Hum Reprod 1997;12:1430-1433.
57. Gerasimova T, Thanasoula MN, Zattas D, Seli E, Sakkas D, Lalioti MD. Identification and in vitro characterization of follicle stimulating hormone (FSH) receptor variants associated with abnormal ovarian response to FSH. J Clin Endocrinol Metab 2010; 95:529-536.
58. Gharani N, Waterworth DM, Batty S, White D, Gilling-Smith C, Conway GS, McCarthy M, Franks S, Williamson R. Association of the steroid synthesis gene CYP11a with polycystic ovary syndrome and hyperandrogenism. Hum Mol Genet 1997;6:397-402.
59. Giacomini KM, Brett CM, Altman RB, Benowitz NL, Dolan ME, Flockhart DA, Johnson JA, Hayes DF, Klein T, Krauss RM. et al. The pharmacogenetics research network: from SNP discovery to clinical drug response. Clin Pharmacol Ther 2007;81:328-345.
60. Giangrande PH, Kimbrel EA, Edwards DP, McDonnell DP. The opposing transcriptional activities of the two isoforms of the human progesterone receptor are due to differential cofactor binding. Mol Cell Biol 2000; 20:3102-3115.
61. Goff AK, Leung PC, Armstrong DT. Stimulatory action of follicle-stimulating hormone and androgens on the responsiveness of rat granulosa cells to gonadotropins in vitro. Endocrinology 1979;104:1124-1129.
62. Goldenberg RL, Vaitukaitis JL, Ross GT. Estrogen and follicle stimulation hormone interactions on follicle growth in rats. Endocrinology 1972;90:1492-1498.
63. Graham JD, Clarke CL. Physiological action of progesterone in target tissues. Endocr Rev 1997;18:502-519.
64. Haavisto AM, Pettersson K, Bergendahl M, Virkamaki A, Huhtaniemi I. Occurrence and biological properties of a common genetic variant of luteinizing hormone. J Clin Endocrinol Metab 1995;80:1257-1263.
65. Haggarty P, McCallum H, McBain H, Andrews K, Duthie S, McNeill G, Templeton A, Haites N, Campbell D, Bhattacharya S. Effect of B vitamins and genetics on success of in-vitro fertilisation: prospective cohort study. Lancet 2006; 367:1513-1519.
66. Haiman CA, Hankinson SE, Spiegelman D, De Vivo I, Colditz GA, Willett WC, Speizer FE, Hunter DJ. A tetranucleotide repeat polymorphism in CYP19 and breast cancer risk. Int J Cancer 2000;87:204-210.
67. Haller K, Salumets A, Uibo R. Anti-FSH antibodies associate with poor outcome of ovarian stimulation in IVF. Reprod Biomed Online 2008;16:350-355.
68. Hanevik HI, Hilmarsen HT, Skjelbred CF, Tanbo T, Kahn JA. Single nucleotide polymorphisms in the anti-Mullerian hormone signalling pathway do not determine high or low response to ovarian stimulation. Reprod Biomed Online 2010;21:616-623.
69. Hanevik HI, Hilmarsen HT, Skjelbred CF, Tanbo T, Kahn JA. A single nucleotide polymorphism in BMP15 is associated with high response to ovarian stimulation. Reprod Biomed Online 2011;23:97-104.
70. Hanrahan JP, Gregan SM, Mulsant P, Mullen M, Davis GH, Powell R, Galloway SM. Mutations in the genes for oocyte-derived growth factors GDF9 and BMP15 are associated with both increased ovulation rate and sterility in Cambridge and Belclare sheep (Ovis aries). Biol Reprod 2004;70:900-909.
71. Hansson B, Westerberg L. On the correlation between heterozygosity and fitness in natural populations. Mol Ecol 2002;11:2467-2474.
72. Harmon DL, Woodside JV, Yarnell JW, McMaster D, Young IS, McCrum EE, Gey KF, Whitehead AS, Evans AE. The common 'thermolabile' variant of methylene tetrahydrofolate reductase is a major determinant of mild hyperhomocys teinaemia. QJM 1996;89:571-577.
73. Hatzi E, Bouba I, Galidi A, Lazaros L, Xita N, Sakaloglou P, Kolios G, Bairaktari E, Kaponis A, Zikopoulos K. et al. Association of serum and follicular fluid SHBG levels and SHBG (TAAAA)n polymorphism with follicle size in women undergoing ovarian stimulation. Gynecol Endocrinol 2010;27:27-32.
74. Hecht S, Pavlik R, Lohse P, Noss U, Friese K, Thaler CJ. Common 677C-T mutation of the 5,10-methylenetetrahydrofolate reductase gene affects follicular estradiol synthesis. Fertil Steril 2009;91:56-61.
75. Hillier SG, Whitelaw PF, Smyth CD. Follicular oestrogen synthesis: the 'two-cell, two-gonadotrophin' model revisited. Mol Cell Endocrinol 1994;100:51-54.
76. Hiroi S, Harada H, Nishi H, Satoh M, Nagai R, Kimura A. Polymorphisms in the SOD2 and HLA-DRB1 genes are associated with nonfamilial idiopathic dilated cardiomyopathy in Japanese. Biochem Biophys Res Commun 1999;261:332-339.
77. Hogeveen KN, Talikka M, Hammond GL. Human sex hormone-binding globulin promoter activity is influenced by a (TAAAA)n repeat element within an Alu sequence. J Biol Chem 2001;276:36383-36390.
78. Huang RF, Ho YH, Lin HL, Wei JS, Liu TZ. Folate deficiency induces a cell cycle-specific apoptosis in HepG2 cells. J Nutr 1999;129:25-31.
79. Ingrosso D, Cimmino A, Perna AF, Masella L, De Santo NG, De Bonis ML, Vacca M, D'Esposito M, D'Urso M, Galletti P. et al. Folate treatment and unbalanced methylation and changes of allelic expression induced by hyperhomocys teinaemia in patients with uraemia. Lancet 2003;361:1693-1699.
80. Jacob RA, Gretz DM, Taylor PC, James SJ, Pogribny IP, Miller BJ, Henning SM, Swendseid ME. Moderate folate depletion increases plasma homocysteine and decreases lymphocyte DNA methylation in postmenopausal women. J Nutr 1998;128:1204-1212.
81. Jacques PF, Bostom AG, Wilson PW, Rich S, Rosenberg IH, Selhub J. Determinants of plasma total homocysteine concentration in the Framingham Offspring cohort. Am J Clin Nutr 2001;73:613-621.
82. Jun JK, Yoon JS, Ku SY, Choi YM, Hwang KR, Park SY, Lee GH, Lee WD, Kim SH, Kim JG. et al. Follicle-stimulating hormone receptor gene polymorphism and ovarian responses to controlled ovarian hyperstimulation for IVF-ET. J Hum Genet 2006;51:665-670.
83. Kerkelä E, Skottman H, Friden B, Bjuresten K, Kere J, Hovatta O. Exclusion of coding-region mutations in luteinizing hormone and follicle-stimulating hormone receptor genes as the cause of ovarian hyperstimulation syndrome. Fertil Steril 2007;87:603-606.
84. Kevenaar ME, Themmen AP, Laven JS, Sonntag B, Fong SL, Uitterlinden AG, de Jong FH, Pols HA, Simoni M, Visser JA. Anti-Mullerian hormone and anti-Mullerian hormone type II receptor polymorphisms are associated with follicular phase estradiol levels in normo-ovulatory women. Hum Reprod 2007; 22:1547-1554.
85. Kimura M, Umegaki K, Higuchi M, Thomas P, Fenech M. Methylenetetrahydrofolate reductase C677T polymorphism, folic acid and riboflavin are important determinants of genome stability in cultured human lymphocytes. J Nutr 2004; 134:48-56.
86. Kligman I, Rosenwaks Z. Differentiating clinical profiles: predicting good responders, poor responders, and hyperresponders. Fertil Steril 2001; 76:1185-1190.
87. Klinkert ER, te Velde ER, Weima S, van Zandvoort PM, Hanssen RG, Nilsson PR, de Jong FH, Looman CW, Broekmans FJ. FSH receptor genotype is associated with pregnancy but not with ovarian response in IVF. Reprod Biomed Online 2006; 13:687-695.
88. Knight PG, Glister C. TGF-beta superfamily members and ovarian follicle development. Reproduction 2006;132:191-206.
89. Kovanci E, Rohozinski J, Simpson JL, Heard MJ, Bishop CE, Carson SA. Growth differentiating factor-9 mutations may be associated with premature ovarian failure. Fertil Steril 2007;87:143-146.
90. Kristensen VN, Andersen TI, Lindblom A, Erikstein B, Magnus P, Borresen-Dale AL. A rare CYP19 (aromatase) variant may increase the risk of breast cancer. Pharmacogenetics 1998;8:43-48.
91. Kristensen VN, Harada N, Yoshimura N, Haraldsen E, Lonning PE, Erikstein B, Karesen R, Kristensen T, Borresen-Dale AL. Genetic variants of CYP19 (aromatase) and breast cancer risk. Oncogene 2000;19:1329-1333.
92. Kuiper GG, Enmark E, Pelto-Huikko M, Nilsson S, Gustafsson JA. Cloning of a novel receptor expressed in rat prostate and ovary. Proc Natl Acad Sci USA 1996; 93:5925-5930.
93. Kurosaki K, Saitoh H, Oota H, Watanabe Y, Kiuchi M, Ueda S. Combined polymorphism associated with a 3-bp deletion in the 5′-flanking region of a tetrameric short tandem repeat at the CYP19 locus. Nihon Hoigaku Zasshi 1997;51:191-195.
94. Kyzas PA, Denaxa-Kyza D, Ioannidis JP. Quality of reporting of cancer prognostic marker studies: association with reported prognostic effect. J Natl Cancer Inst 2007;99:236-243.
95. Laanpere M, Altmäe S, Stavreus-Evers A, Nilsson TK, Yngve A, Salumets A. Folate-mediated one-carbon metabolism and its effect on female fertility and pregnancy viability. Nutr Rev 2010;68:99-113.
96. Laanpere M, Altmäe S, Kaart T, Stavreus-Evers A, Nilsson TK, Salumets A. Folate-metabolizing gene variants and pregnancy outcome of IVF. Reprod Biomed Online 2011;22:603-614.
97. Lalioti MD. Impact of follicle stimulating hormone receptor variants in fertility. Curr Opin Obstet Gynecol 2011;23:158-167.
98. Lalioti M, Gerasimova T, Anastasakis D, Zattas D, Seli E, Sakkas D. A deleted form of follicle stimulating hormone (FSH) receptor, found in women with low response to FSH, impairs the function of the normal receptor when co-expressed in vitro. Fertil Steril 2010;O-119:s35-s36.
99. Liao WX, Roy AC, Chan C, Arulkumaran S, Ratnam SS. A new molecular variant of luteinizing hormone associated with female infertility. Fertil Steril 1998; 69:102-106.
100. Livshyts G, Podlesnaja S, Kravchenko S, Sudoma I, Livshits L. A distribution of two SNPs in exon 10 of the FSHR gene among the women with a diminished ovarian reserve in Ukraine. J Assist Reprod Genet 2009;26:29-34.
101. Loutradis D, Patsoula E, Minas V, Koussidis GA, Antsaklis A, Michalas S, Makrigiannakis A. 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;23:177-184.
102. Loutradis D, Vlismas A, Drakakis P, Antsaklis A. Pharmacogenetics in ovarian stimulation-current concepts. Ann N Y Acad Sci 2008;1127:10-19.
103. Lukusa T, Fryns JP. Human chromosome fragility. Biochim Biophys Acta 2008; 1779:3-16.
104. Macek M, Feldmár P, Klucková H, Hrehorcák M, Diblík J, Paulasová P, Turnovec M, Vilímová S, Macek M. FSH-R polymorphism in sever types of OHSS (type III and IV/V): results of a Czech pilot study. Hum Reprod 2010; 25(suppl1):i323.
105. Machac S, Lubusky M, Prochazka M, Streda R. Prevalence of inherited thrombophilia in patients with severe ovarian hyperstimulation syndrome. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub 2006;150:289-292.
106. Macklon NS, Stouffer RL, Giudice LC, Fauser BC. The science behind 25 years of ovarian stimulation for in vitro fertilization. Endocr Rev 2006;27:170-207.
107. Marchini J, Donnelly P, Cardon LR. Genome-wide strategies for detecting multiple loci that influence complex diseases. Nat Genet 2005;37:413-417.
108. McCarthy MI, Abecasis GR, Cardon LR, Goldstein DB, Little J, Ioannidis JP, Hirschhorn JN. Genome-wide association studies for complex traits: consensus, uncertainty and challenges. Nat Rev Genet 2008;9:356-369.
109. Mohanty D, Das KC. Effect of folate deficiency on the reproductive organs of female rhesus monkeys: a cytomorphological and cytokinetic study. J Nutr 1982; 112:1565-1576.
110. Mooij PN, Wouters MG, Thomas CM, Doesburg WH, Eskes TK. Disturbed reproductive performance in extreme folic acid deficient golden hamsters. Eur J Obstet Gynecol Reprod Biol 1992;43:71-75.
111. Moron FJ, Ruiz A. Pharmacogenetics of controlled ovarian hyperstimulation: time to corroborate the clinical utility of FSH receptor genetic markers. Pharmacogenomics 2010;11:1613-1618.
112. Moron FJ, de Castro F, Royo JL, Montoro L, Mira E, Saez ME, Real LM, Gonzalez A, Manes S, Ruiz A. Bone morphogenetic protein 15 (BMP15) alleles predict over-response to recombinant follicle stimulation hormone and iatrogenic ovarian hyperstimulation syndrome (OHSS). Pharmacogenet Genomics 2006; 16:485-495.
113. Moron FJ, Galan JJ, Ruiz A. Controlled ovarian hyperstimulation pharmacogenetics: a simplified model to genetically dissect estrogen-related diseases. Pharmacoge nomics 2007;8:775-785.
114. Nakayama T, Kuroi N, Sano M, Tabara Y, Katsuya T, Ogihara T, Makita Y, Hata A, Yamada M, Takahashi N. et al. Mutation of the follicle-stimulating hormone receptor gene 5′-untranslated region associated with female hypertension. Hypertension 2006;48:512-518.
115. Narayanan S, McConnell J, Little J, Sharp L, Piyathilake CJ, Powers H, Basten G, Duthie SJ. Associations between two common variants C677T and A1298C in the methylenetetrahydrofolate reductase gene and measures of folate metabolism and DNA stability (strand breaks, misincorporated uracil, and DNA methylation status) in human lymphocytes in vivo. Cancer Epidemiol Biomarkers Prev 2004;13:1436-1443.
116. Okuda K, Takamatsu J, Okazaki T, Yamada T, Saeki M, Sugimoto O. Hereditary abnormality of luteinizing hormone resulting in discrepant serum concentrations determined by different assays. Endocr J 1994;41:639-644.
117. Overbeek A, Lambalk CB. Phenotypic and pharmacogenetic aspects of ovulation induction in WHO II anovulatory women. Gynecol Endocrinol 2009a; 25:222-234.
118. Overbeek A, Lambalk N. Pharmacogenomics of ovulation induction: facilitating decisions on who, when and how to treat. Pharmacogenomics 2009b; 10:1377-1379.
119. Pacchiarotti A, Mohamed MA, Micara G, Linari A, Tranquilli D, Espinola SB, Aragona C. The possible role of hyperhomocysteinemia on IVF outcome. J Assist Reprod Genet 2007;24:459-462.
120. Palmer JS, Zhao ZZ, Hoekstra C, Hayward NK, Webb PM, Whiteman DC, Martin NG, Boomsma DI, Duffy DL, Montgomery GW. Novel variants in growth differentiation factor 9 in mothers of dizygotic twins. J Clin Endocrinol Metab 2006;91:4713-4716.
121. Pelletier G, El-Alfy M. Immunocytochemical localization of estrogen receptors alpha and beta in the human reproductive organs. J Clin Endocrinol Metab 2000; 85:4835-4840.
122. 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;85:3365-3369.
123. Piersma D, Berns EM, Verhoef-Post M, Uitterlinden AG, Braakman I, Pols HA, Themmen AP. A common polymorphism renders the luteinizing hormone receptor protein more active by improving signal peptide function and predicts adverse outcome in breast cancer patients. J Clin Endocrinol Metab 2006; 91:1470-1476.
124. Piersma D, Verhoef-Post M, Look MP, Uitterlinden AG, Pols HA, Berns EM, Themmen AP. Polymorphic variations in exon 10 of the luteinizing hormone receptor: functional consequences and associations with breast cancer. Mol Cell Endocrinol 2007;276:63-70.
125. Powell BL, Piersma D, Kevenaar ME, van Staveren IL, Themmen AP, Iacopetta BJ, Berns EM. Luteinizing hormone signaling and breast cancer: polymorphisms and age of onset. J Clin Endocrinol Metab 2003;88:1653-1657.
126. Ramanujam LN, Liao WX, Roy AC, Loganath A, Goh HH, Ng SC. Association of molecular variants of luteinizing hormone with menstrual disorders. Clin Endocrinol (Oxf) 1999;51:243-246.
127. Rosen MP, Shen S, McCulloch CE, Rinaudo PF, Cedars MI, Dobson AT. Methylenetetrahydrofolate reductase (MTHFR) is associated with ovarian follicular activity. Fertil Steril 2007;88:632-638.
128. Rousseau-Merck MF, Atger M, Loosfelt H, Milgrom E, Berger R. 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 1993;15:222-224.
129. Ruiz-Sanz JI, Aurrekoetxea I, Matorras R, Ruiz-Larrea MB. Ala16Val SOD2 polymorphism is associated with higher pregnancy rates in in vitro fertilization cycles. Fertil Steril 2010;95:1601-1605.
130. Ryan KJ. Biochemistry of aromatase: significance to female reproductive physiology. Cancer Res 1982;42 Suppl 8:3342s-3344s.
131. Salha O, Balen AH. New concepts in superovulation strategies for assisted conception treatments. Curr Opin Obstet Gynecol 2000;12:201-206.
132. Schreiber JR, Nakamura K, Erickson GF. Progestins inhibit FSH-stimulated granulosa estrogen production at a post-cAMP site. Mol Cell Endocrinol 1981;21:161-170.
133. Sebastian S, Bulun SE. A highly complex organization of the regulatory region of the human CYP19 (aromatase) gene revealed by the Human Genome Project. J Clin Endocrinol Metab 2001;86:4600-4602.
134. Simoni M, Nieschlag E, Gromoll J. Isoforms and single nucleotide polymorphisms of the FSH receptor gene: implications for human reproduction. Hum Reprod Update 2002;8:413-421.
135. 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 2008a;14:459-484.
136. Simoni M, Tuttelmann F, Michel C, Bockenfeld Y, Nieschlag E, Gromoll J. Polymorphisms of the luteinizing hormone/chorionic gonadotropin receptor gene: association with maldescended testes and male infertility. Pharmacogenet Genomics 2008b;18:193-200.
137. Spandorfer SD, Normand N, Dragisic K, Rosenwaks Z, Witkin SS. A G-A polymorphism at position +331 in the progesterone receptor gene is strongly associated with IVF outcome. Fertil Steril 2006;86 Suppl 2:s3-s4.
138. Speroff L, Fritz MA. Clinical Gynecologic Endocrinology and Infertility. Philadelphia: Lippincott Williams & Wilkins, 2005.
139. Stern LL, Mason JB, Selhub J, Choi SW. Genomic DNA hypomethylation, a characteristic of most cancers, is present in peripheral leukocytes of individuals who are homozygous for the C677T polymorphism in the methylenetetrahy drofolate reductase gene. Cancer Epidemiol Biomarkers Prev 2000;9:849-853.
140. Sudo S, Kudo M, Wada S, Sato O, Hsueh AJ, Fujimoto S. Genetic and functional analyses of polymorphisms in the human FSH receptor gene. Mol Hum Reprod 2002;8:893-899.
141. Sundarrajan C, Liao W, Roy AC, Ng SC. Association of oestrogen receptor gene polymorphisms with outcome of ovarian stimulation in patients undergoing IVF. Mol Hum Reprod 1999;5:797-802.
142. Szymanski W, Kazdepka-Zieminska A. Effect of homocysteine concentration in follicular fluid on a degree of oocyte maturity. Ginekol Pol 2003;74:1392-1396.
143. Tamura T, Picciano MF. Folate and human reproduction. Am J Clin Nutr 2006; 83:993-1016.
144. Thaler CJ, Budiman H, Ruebsamen H, Nagel D, Lohse P. Effects of the common 677C.T mutation of the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene on ovarian responsiveness to recombinant follicle-stimulating hormone. Am J Reprod Immunol 2006;55:251-258.
145. Twigt JM, Hammiche F, Sinclair KD, Beckers NG, Visser JA, Lindemans J, de Jong FH, Laven JS, Steegers-Theunissen RP. Preconception folic Acid use modulates estradiol and follicular responses to ovarian stimulation. J Clin Endocrinol Metab 2011;96:E322-E329.
146. Tworoger SS, Chubak J, Aiello EJ, Ulrich CM, Atkinson C, Potter JD, Yasui Y, Stapleton PL, Lampe JW, Farin FM. et al. Association of CYP17, CYP19, CYP1B1, and COMT polymorphisms with serum and urinary sex hormone concentrations in postmenopausal women. Cancer Epidemiol Biomarkers Prev 2004;13:94-101.
147. Valkenburg O, van Santbrink EJ, Themmen AP, Uitterlinden AG, Fauser BC, Laven JS. FSH receptor polymorphism affects the outcome of ovulation induction in normogonadotrophic anovulatory infertility (WHOII). Reprod Sci 2009;16:278A.
148. van Disseldorp J, Franke L, Eijkemans R, Broekmans F, Macklon N, Wijmenga C, Fauser B. Genome-wide analysis shows no genomic predictors of ovarian response to stimulation by exogenous FSH for IVF. Reprod Biomed Online 2011;22:382-388.
149. Wang TT, Wu YT, Dong MY, Sheng JZ, Leung PC, Huang HF. G546A polymorphism of growth differentiation factor-9 contributes to the poor outcome of ovarian stimulation in women with diminished ovarian reserve. Fertil Steril 2010; 94:2490-2492.
150. Weenen C, Laven JS, Von Bergh AR, Cranfield M, Groome NP, Visser JA, Kramer P, Fauser BC, Themmen AP. Anti-Mullerian hormone expression pattern in the human ovary: potential implications for initial and cyclic follicle recruitment. Mol Hum Reprod 2004;10:77-83.
151. Willmott M, Bartosik DB, Romanoff EB. The effect of folic acid on superovulation in the immature rat. J Endocrinol 1968;41:439-445.
152. Wunsch A, Ahda Y, Banaz-Yasar F, Sonntag B, Nieschlag E, Simoni M, Gromoll J. Single-nucleotide polymorphisms in the promoter region influence the expression of the human follicle-stimulating hormone receptor. Fertil Steril 2005; 84:446-453.
153. Wunsch A, Sonntag B, Simoni M. Polymorphism of the FSH receptor and ovarian response to FSH. Ann Endocrinol (Paris) 2007;68:160-166.
154. Yao Y, Ma CH, Tang HL, Hu YF. Influence of follicle-stimulating hormone receptor (FSHR) Ser680Asn polymorphism on ovarian function and in-vitro fertilization outcome: A meta-analysis. Mol Genet Metab 2011. April 17 [Epub ahead of print].
155. Zerbetto I, Gromoll J, Luisi S, Reis FM, Nieschlag E, Simoni M, Petraglia F. Follicle-stimulating hormone receptor and DAZL gene polymorphisms do not affect the age of menopause. Fertil Steril 2008;90:2264-2268.