Прогнозирование исходов программ вспомогательных репродуктивных технологий с использованием молекулярно-генетических маркеров

1. Zegers-Hochschild F, Adamson GD, de Mouzon J et al. The International Committee for Monitoring Assisted Reproductive Technology (ICMART) and the World Health Organization (WHO) Revised Glossary on ART Terminol- ogy, 2009. Hum Reprod 2009; 24 (11): 2683–7.
2. Rosenbluth EM, van Voorhis BJ. Evolving role of assisted reproductive technologies. Clin Obstet Gynecol 2011; 54 (4): 734–45.
3. Lledo B, Ortiz JA, Llacer J, Bernabeu R. Pharmacogenetics of ovarian re- sponse. Pharmacogenomics 2014; 15 (6): 885–93.
4. Boudjenah R, Molina-Gomes D, Torre A et al. Genetic polymorphisms in- fluence the ovarian response to rFSH stimulation in patients undergoing in vitro fertilization programs with ICSI. PloS one 2012; 7 (6): e38700.
5. Sunkara SK, Rittenberg V, Raine-Fenning N et al. Association between the number of eggs and live birth in IVF treatment: an analysis of 400 135 treatment cycles. Hum Reprod 2011; 26 (7): 1768–74.
6. Oehninger S. Ovulation induction in IVF. Minerva Ginecol 2011; 63 (2): 137–56.
7. Mutsatsa S, Currid TJ. Pharmacogenetics: a reality or misplaced opti- mism? J Psychiatr Ment Health Nurs 2013; 20 (4): 314–20.
8. 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): 1–14.
9. Wang J, Pang GS, Chong SS, Lee CG. SNP web resources and their potential applications in personalized medicine. Current Drug Metab 2012; 13 (7): 978–90.
10. Altmae S, Hovatta O, Stavreus-Evers A, Salumets A. Genetic predictors of controlled ovarian hyperstimulation: where do we stand today? Hum Re-  prod Update 2011; 17 (6): 813–28.
11. Laan M, Grigorova M, Huhtaniemi IT. Pharmacogenetics of follicle- stimulating hormone action. Curr Opinion Endocrinol Diabetes Obes 2012; 19 (3): 220–7.
12. Livshyts G, Podlesnaja S, Kravchenko S et al. 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 (1): 29–34.
13. Lledo B, Guerrero J, Turienzo A et al. Effect of follicle-stimulating hor- mone receptor N680S polymorphism on the efficacy of follicle-stimulating hormone stimulation on donor ovarian response. Pharmacogenet Ge- nomics 2013; 23 (5): 262–8.
14. Mohiyiddeen L, Newman WG, Cerra C et al. FSH receptor genotype does not predict metaphase-II oocyte output or fertilization rates in ICSI pa- tients. Reprod Biomed Online 2013; 27 (3): 305–9.
15. Desai SS, Achrekar SK, Paranjape SR et al. Association of allelic combi- nations of FSHR gene polymorphisms with ovarian response. Reprod Bio- med Online 2013; 27 (4): 400–6.
16. Desai SS, Achrekar SK, Pathak BR et al. Follicle-stimulating hormone re- ceptor polymorphism (G-29A) is associated with altered level of receptor expression in Granulosa cells. J Clin Endocrinol Metab 2011; 96 (9): 2805–12.
17. Alviggi C, Clarizia R, Pettersson K et al. Suboptimal response to GnRHa long protocol is associated with a common LH polymorphism. Reprod Bio- med Online 2009; 18 (1): 9–14.
18. Bentov Y, Kenigsberg S, Casper RF. A novel luteinizing hormone/chori- onic gonadotropin receptor mutation associated with amenorrhea, low  oocyte yield, and recurrent pregnancy loss. Fertil Steril 2012; 97 (5): 1165–8.
19. Haasl RJ, Ahmadi MR, Meethal SV et al. A luteinizing hormone receptor intronic variant is significantly associated with decreased risk of Alzheimer's disease in males carrying an apolipoprotein E epsilon4 allele. BMC Med Genet 2008; 9: 37.
20. Altmae S, Haller K, Peters M et al. Allelic estrogen receptor 1 (ESR1) gene variants predict the outcome of ovarian stimulation in in vitro fertilization. Mol Human Reprod 2007; 13 (8): 521–6.
21. Ayvaz OU, Ekmekci A, Baltaci V et al. Evaluation of in vitro fertilization parameters and estrogen receptor alpha gene polymorphisms for women with unexplained infertility. J Assist Reprod Genetics 2009; 26 (9–10): 503–10.
22. Hanevik HI, Hilmarsen HT, Skjelbred CF et al. Single nucleotide poly- morphisms in the anti-Mullerian hormone signalling pathway do not de- termine high or low response to ovarian stimulation. Reprod Biomed On- line 2010; 21 (5): 616–23.
23. Yoshida Y, Yamashita Y, Saito N et al. Analyzing the possible involvement of anti-Mullerian hormone and anti-Mullerian hormone receptor II single nucleotide polymorphism in infertility. J Assist Reprod Genet 2014; 31 (2): 163–8.
24. Dupakuntla M, Mahale SD. Accessibility of the extracellular loops of fol- licle stimulating hormone receptor and their role in hormone-receptor in- teraction. Mol Cell Endocrinol 2010; 315 (1–2): 131–7.
25. Moron FJ, Galan JJ, Ruiz A. Controlled ovarian hyperstimulation phar- macogenetics: a simplified model to genetically dissect estrogen-related diseases. Pharmacogenomics 2007; 8 (7): 775–85.
26. 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; 103 (4): 388–93.
27. Jun JK, Yoon JS, Ku SY et al. Follicle-stimulating hormone receptor gene polymorphism and ovarian responses to controlled ovarian hyperstimula- tion for IVF-ET. J Hum Genet 2006; 51 (8): 665–70.
28. Jiang X, Dias JA, He X. Structural biology of glycoprotein hormones and their receptors: insights to signaling. Mol Cell Endocrinol 2014; 382 (1): 424–51.
29. Berger K, Billerbeck AE, Costa EM et al. 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 2005; 60 (6): 461–4.
30. Ziecik AJ, Kaczmarek MM, Blitek A et al. Novel biological and possible applicable roles of LH/hCG receptor. Mol Cell Endocrinol 2007; 269 (1–2): 51–60.
31. Perrier d’Hauterive S, Berndt S, Tsampalas M et al. Dialogue between blastocyst hCG and endometrial LH/hCG receptor: which role in implanta- tion? Gynecol Obstet Investig 2007; 64 (3): 156–60.
32. O’Brien T, Kalmin MM, Harralson AF et al. Association between the luteinizing hormone/chorionic gonadotropin receptor (LHCGR) rs4073366 polymorphism and ovarian hyperstimulation syndrome  dur- ing controlled ovarian hyperstimulation. Reprod Biol Endocrinol 2013; 11 (1): 71.
33. O’Brien TJ, Kalmin MM, Harralson AF et al. Association between the luteinizing hormone/chorionic gonadotropin receptor (LHCGR) rs4073366 polymorphism and ovarian hyperstimulation syndrome  dur- ing controlled ovarian hyperstimulation. Reproductive biology and en- docrinology 2013; 11 (1): 71.
34. Anagnostou E, Mavrogianni D, Theofanakis C et al. ESR1, ESR2 and FSH receptor gene polymorphisms in combination: a useful genetic tool for the prediction of poor responders. Curr Pharmaceutical Biotech 2012; 13 (3): 426–34.
35. Nelson SM, Yates RW, Lyall H et al. Anti-Mullerian hormone-based ap- proach to controlled ovarian stimulation for assisted conception. Hum Re- prod 2009; 24 (4): 867–75.
36. Kevenaar ME, Themmen AP, Laven JS et al. Anti-Mullerian hormone and anti-Mullerian hormone type II receptor  polymorphisms  are  associ- ated with follicular phase  estradiol  levels  in  normo-ovulatory  women.  Hum Reprod 2007; 22 (6): 1547–54.
37. Ferraretti AP, La Marca A, Fauser BC et al. ESHRE consensus on the defi- nition of 'poor response' to ovarian stimulation for in vitro fertilization: the Bologna criteria. Hum Reprod 2011; 26 (7): 1616–24.
38. American Society of Reproductive Medicine. Ovarian hyperstimulation syndrome. Fertil Steril 2008; 90 (5. Suppl.): S188–193.
39. Delvigne A. Symposium: Update on prediction and management of OHSS. Epidemiology of OHSS. Reprod Biomed Online 2009; 19 (1): 8–13.
40. The Istanbul consensus workshop on embryo assessment: proceedings of an expert meeting. Hum Reprod 2011; 26 (6): 1270–83.

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1. Zegers-Hochschild F, Adamson GD, de Mouzon J et al. The International Committee for Monitoring Assisted Reproductive Technology (ICMART) and the World Health Organization (WHO) Revised Glossary on ART Terminol- ogy, 2009. Hum Reprod 2009; 24 (11): 2683–7.
2. Rosenbluth EM, van Voorhis BJ. Evolving role of assisted reproductive technologies. Clin Obstet Gynecol 2011; 54 (4): 734–45.
3. Lledo B, Ortiz JA, Llacer J, Bernabeu R. Pharmacogenetics of ovarian re- sponse. Pharmacogenomics 2014; 15 (6): 885–93.
4. Boudjenah R, Molina-Gomes D, Torre A et al. Genetic polymorphisms in- fluence the ovarian response to rFSH stimulation in patients undergoing in vitro fertilization programs with ICSI. PloS one 2012; 7 (6): e38700.
5. Sunkara SK, Rittenberg V, Raine-Fenning N et al. Association between the number of eggs and live birth in IVF treatment: an analysis of 400 135 treatment cycles. Hum Reprod 2011; 26 (7): 1768–74.
6. Oehninger S. Ovulation induction in IVF. Minerva Ginecol 2011; 63 (2): 137–56.
7. Mutsatsa S, Currid TJ. Pharmacogenetics: a reality or misplaced opti- mism? J Psychiatr Ment Health Nurs 2013; 20 (4): 314–20.
8. 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): 1–14.
9. Wang J, Pang GS, Chong SS, Lee CG. SNP web resources and their potential applications in personalized medicine. Current Drug Metab 2012; 13 (7): 978–90.
10. Altmae S, Hovatta O, Stavreus-Evers A, Salumets A. Genetic predictors of controlled ovarian hyperstimulation: where do we stand today? Hum Re-  prod Update 2011; 17 (6): 813–28.
11. Laan M, Grigorova M, Huhtaniemi IT. Pharmacogenetics of follicle- stimulating hormone action. Curr Opinion Endocrinol Diabetes Obes 2012; 19 (3): 220–7.
12. Livshyts G, Podlesnaja S, Kravchenko S et al. 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 (1): 29–34.
13. Lledo B, Guerrero J, Turienzo A et al. Effect of follicle-stimulating hor- mone receptor N680S polymorphism on the efficacy of follicle-stimulating hormone stimulation on donor ovarian response. Pharmacogenet Ge- nomics 2013; 23 (5): 262–8.
14. Mohiyiddeen L, Newman WG, Cerra C et al. FSH receptor genotype does not predict metaphase-II oocyte output or fertilization rates in ICSI pa- tients. Reprod Biomed Online 2013; 27 (3): 305–9.
15. Desai SS, Achrekar SK, Paranjape SR et al. Association of allelic combi- nations of FSHR gene polymorphisms with ovarian response. Reprod Bio- med Online 2013; 27 (4): 400–6.
16. Desai SS, Achrekar SK, Pathak BR et al. Follicle-stimulating hormone re- ceptor polymorphism (G-29A) is associated with altered level of receptor expression in Granulosa cells. J Clin Endocrinol Metab 2011; 96 (9): 2805–12.
17. Alviggi C, Clarizia R, Pettersson K et al. Suboptimal response to GnRHa long protocol is associated with a common LH polymorphism. Reprod Bio- med Online 2009; 18 (1): 9–14.
18. Bentov Y, Kenigsberg S, Casper RF. A novel luteinizing hormone/chori- onic gonadotropin receptor mutation associated with amenorrhea, low  oocyte yield, and recurrent pregnancy loss. Fertil Steril 2012; 97 (5): 1165–8.
19. Haasl RJ, Ahmadi MR, Meethal SV et al. A luteinizing hormone receptor intronic variant is significantly associated with decreased risk of Alzheimer's disease in males carrying an apolipoprotein E epsilon4 allele. BMC Med Genet 2008; 9: 37.
20. Altmae S, Haller K, Peters M et al. Allelic estrogen receptor 1 (ESR1) gene variants predict the outcome of ovarian stimulation in in vitro fertilization. Mol Human Reprod 2007; 13 (8): 521–6.
21. Ayvaz OU, Ekmekci A, Baltaci V et al. Evaluation of in vitro fertilization parameters and estrogen receptor alpha gene polymorphisms for women with unexplained infertility. J Assist Reprod Genetics 2009; 26 (9–10): 503–10.
22. Hanevik HI, Hilmarsen HT, Skjelbred CF et al. Single nucleotide poly- morphisms in the anti-Mullerian hormone signalling pathway do not de- termine high or low response to ovarian stimulation. Reprod Biomed On- line 2010; 21 (5): 616–23.
23. Yoshida Y, Yamashita Y, Saito N et al. Analyzing the possible involvement of anti-Mullerian hormone and anti-Mullerian hormone receptor II single nucleotide polymorphism in infertility. J Assist Reprod Genet 2014; 31 (2): 163–8.
24. Dupakuntla M, Mahale SD. Accessibility of the extracellular loops of fol- licle stimulating hormone receptor and their role in hormone-receptor in- teraction. Mol Cell Endocrinol 2010; 315 (1–2): 131–7.
25. Moron FJ, Galan JJ, Ruiz A. Controlled ovarian hyperstimulation phar- macogenetics: a simplified model to genetically dissect estrogen-related diseases. Pharmacogenomics 2007; 8 (7): 775–85.
26. 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; 103 (4): 388–93.
27. Jun JK, Yoon JS, Ku SY et al. Follicle-stimulating hormone receptor gene polymorphism and ovarian responses to controlled ovarian hyperstimula- tion for IVF-ET. J Hum Genet 2006; 51 (8): 665–70.
28. Jiang X, Dias JA, He X. Structural biology of glycoprotein hormones and their receptors: insights to signaling. Mol Cell Endocrinol 2014; 382 (1): 424–51.
29. Berger K, Billerbeck AE, Costa EM et al. 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 2005; 60 (6): 461–4.
30. Ziecik AJ, Kaczmarek MM, Blitek A et al. Novel biological and possible applicable roles of LH/hCG receptor. Mol Cell Endocrinol 2007; 269 (1–2): 51–60.
31. Perrier d’Hauterive S, Berndt S, Tsampalas M et al. Dialogue between blastocyst hCG and endometrial LH/hCG receptor: which role in implanta- tion? Gynecol Obstet Investig 2007; 64 (3): 156–60.
32. O’Brien T, Kalmin MM, Harralson AF et al. Association between the luteinizing hormone/chorionic gonadotropin receptor (LHCGR) rs4073366 polymorphism and ovarian hyperstimulation syndrome  dur- ing controlled ovarian hyperstimulation. Reprod Biol Endocrinol 2013; 11 (1): 71.
33. O’Brien TJ, Kalmin MM, Harralson AF et al. Association between the luteinizing hormone/chorionic gonadotropin receptor (LHCGR) rs4073366 polymorphism and ovarian hyperstimulation syndrome  dur- ing controlled ovarian hyperstimulation. Reproductive biology and en- docrinology 2013; 11 (1): 71.
34. Anagnostou E, Mavrogianni D, Theofanakis C et al. ESR1, ESR2 and FSH receptor gene polymorphisms in combination: a useful genetic tool for the prediction of poor responders. Curr Pharmaceutical Biotech 2012; 13 (3): 426–34.
35. Nelson SM, Yates RW, Lyall H et al. Anti-Mullerian hormone-based ap- proach to controlled ovarian stimulation for assisted conception. Hum Re- prod 2009; 24 (4): 867–75.
36. Kevenaar ME, Themmen AP, Laven JS et al. Anti-Mullerian hormone and anti-Mullerian hormone type II receptor  polymorphisms  are  associ- ated with follicular phase  estradiol  levels  in  normo-ovulatory  women.  Hum Reprod 2007; 22 (6): 1547–54.
37. Ferraretti AP, La Marca A, Fauser BC et al. ESHRE consensus on the defi- nition of 'poor response' to ovarian stimulation for in vitro fertilization: the Bologna criteria. Hum Reprod 2011; 26 (7): 1616–24.
38. American Society of Reproductive Medicine. Ovarian hyperstimulation syndrome. Fertil Steril 2008; 90 (5. Suppl.): S188–193.
39. Delvigne A. Symposium: Update on prediction and management of OHSS. Epidemiology of OHSS. Reprod Biomed Online 2009; 19 (1): 8–13.
40. The Istanbul consensus workshop on embryo assessment: proceedings of an expert meeting. Hum Reprod 2011; 26 (6): 1270–83.

И.В.Владимирова, Е.А.Калинина, А.Е.Донников

ФГБУ Научный центр акушерства, гинекологии и перинатологии им. акад. В.И.Кулакова Минздрава России, Москва

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I.V.Vladimirova, E.A.Kalinina, A.E.Donnikov