ESR1 and VEGFA gene polymorphisms as a predictor for the course of ovarian hyperstimulation syndrome in an in vitro fertilization program


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Objective. To search for molecular genetic markers associated with different types of the clinical course of ovarian hyperstimulation syndrome (OHSS) in an IVF program. Subjects and methods. The clinical course of OHSS in the IVF program used in 59patients admitted to hospital for therapy aimed at relieving the symptoms of this complication. According to the onset of OHSS manifestations, the patients were divided into two groups: 1) 42 patients with early OHSS; 2) 17 patients with late OHSS. A wide panel of genetic markers also potentially involved in the development of clinical manifestations of OHSS was examined. The frequency of different alleles of each gene candidate was analyzed in two patient groups (with early and late OHSS). Results. The analysis of a relationship of candidate genes to the onset of OHSS manifestations revealed a statistically significant association of the VEGFA -2578(-2595) A>C [rs699947], VEGFA -634 G>C [rs2010963], ESR1 -351 A>G [Xbal] [rs9340799], and ESR1 -397 T> [PvulI] [rs2234693]polymorphisms with the onset of clinical manifestations of OHSS. According to an autosomal recessive model, the VEGFA -634G/Ggenotype and VEGFA -2578A/A genotype were associated with late OHSS (p = 0.016; OR = 5.87 (95% CI 1.22-28.19) and p = 0.035; OR = 2.38 (95% CI 1.05-5,38), respectively). Examination of ESR1 gene polymorphisms established that according to the autosomal recessive model, the -397C/C and -351G/G genotypes increased the risk of late OHSS (OR = 2.32 (95% CI 1.03-5.23);p = 0.039 and OR = 3.17(95% CI 1.38-7.28), p^ = 0.005, respectively). Analyzing the linkage of the examined VEGFA gene loci revealed a pronounced non-equilibrium coupling between the -2578A>C and-634 G>C loci and that of the -397C>T (PvuII) and -351G>A (XbaI) polymorphism loci in the ESR1 gene. Conclusion. The findings suggest that there is a possible difference in the early and late forms of OHSS in the molecular mechanisms of development determining the pathogenetic features of the course of this complication.

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作者简介

Daria Strelchenko

Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Email: da_strelchenko@mail.ru
graduate student

Svetlana Perminova

Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Email: perisvet@list.ru
MD, Leading Researcher of the 1st gynecological department

Andrey Donnikov

Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Email: a_donnikov@oparina4.ru
Ph.D., senior staff scientist of molecular-genetics Department

参考

  1. Madill J.J., Mulle N.B., Harrison B.P. Ovarian hyperstimulation syndrome: a potentially fatal complication of early pregnancy. J. Emerg. Med. 2008; 35(3): 283-6.
  2. Alama P., Bellver J., Vidal C., Giles J. GnRH analogues in the prevention of ovarian hyperstimulation syndrome. Int. J. Endocrinol. Metab. 2013 Spring; 11(2): 107-16.
  3. Li H.W., Lee V.C., Lau E.Y., Yeung W.S., Ho P.C., Ng E.H. Cumulative livebirth rate in women with polycystic ovary syndrome or isolated polycystic ovaries undergoing in-vitro fertilisation treatment. J. Assist. Reprod. Genet. 2014; 31(2): 205-11.
  4. Nastri C.O., Teixeira D.M., Moroni R.M., Leitäo V.M., Martins W.P. Ovarian hyperstimulation syndrome: pathophysiology, staging, prediction and prevention. Ultrasound Obstet. Gynecol. 2015; 45(4): 377-93.
  5. Vloeberghs V., Peeraer K., Pexsters A., D’Hooghe T. Ovarian hyperstimulation syndrome and complications of ART. Best Pract. Res. Clin. Obstet. Gynaecol. 2009; 23(5): 691-709.
  6. Lyons C.A., Wheeler C.A., Frishman G.N., Hackett R.J., Seifer D.B., Haning R.V. Jr. Early and late presentation of the ovarian hyperstimulation syndrome: two distinct entities with different risk factors. Hum. Reprod. 1994; 9(5): 792-9.
  7. Mathur R.S., Akande A.V, Keay S.D., Hunt L.P., Jenkins J.M. Distinction between early and late ovarian hyperstimulation syndrome. Fertil. Steril. 2000; 73(5): 901-7.
  8. Dieterich M., Bolz M., Reimer T., Costagliola S., Gerber B. Two different entities of spontaneous ovarian hyperstimulation in a woman with FSH receptor mutation. Reprod. Biomed. Online. 2010; 20(6): 751-8.
  9. Osaikhuwuomwan J.A., Osemwenkha A.P. Ovarian hyperstimulation syndrome in a spontaneous pregnancy: A potential for missed-diagnosis. Niger. Med. J. 2016; 57(1): 74-6.
  10. Edwards-Silva R.N., Han C.S., Hoang Y., Kao L.C. Spontaneous ovarian hyperstimulation in a naturally conceived pregnancy with uncontrolled hypothyroidism. Obstet. Gynecol. 2008; 111(2, Pt 2): 498-501.
  11. Borna S., Nasery A. Spontaneous ovarian hyperstimulation in a pregnant woman with hypothyroidism. Fertil. Steril. 2007; 88(3): 705. e1-3.
  12. Dey A.K., Dubey A., Mittal K., Kale S. Spontaneous ovarian hyperstimulation syndrome - understanding the dilemma. Gynecol. Endocrinol. 2015; 31(8): 587-9.
  13. Cabar F.R. Ovarian hyperstimulation syndrome in a spontaneous singleton pregnancy. Einstein (Sao Paulo). 2016; 14(2): 231-4.
  14. Kim M.K., Won H.J., Shim S.H., Cha D.H., Yoon T.K. Spontaneous ovarian hyperstimulation syndrome following a thawed embryo transfer cycle. Clin. Exp. Reprod. Med. 2014; 41(3): 140-5.
  15. De Leener A., Montanelli L., Van Durme J., Chae H., Smits G., Vassart G., Costagliola S. Presence and absence of follicle-stimulating hormone receptor mutations provide some insights into spontaneous ovarian hyperstimulation syndrome physiopathology. J. Clin. Endocrinol. Metab. 2006; 91(2): 555-62.
  16. Montanelli L., Van Durme J.J., Smits G., Bonomi M., Rodien P., Devor E.J. et al. Modulation of ligand selectivity associated with activation of the transmembrane region of the human follitropin receptor. Mol. Endocrinol. 2004; 18(8): 2061-73.
  17. Корнеева И.Е., Перминова С.Г., Павлович С.В., Смольникова В.Ю., Мишиева Н.Г., Юренева С.В., Сароян Т.Т., Краснова Н.А., Ермакова Е.И. Диагностика, лечение и профилактика синдрома гиперстимуляции яичников. Учебно-методическое пособие. М.: ГЭОТАР-Медиа; 2016. [Korneeva I.E., Perminova S.G., Pavlovich S.V., Smolnikova V.Yu., Mishieva N.G., Yureneva S.V., Saroyan T.T., Krasnova N.A., Ermakova E.I. Diagnosis, treatment and prevention of ovarian hyperstimulation syndrome. Teaching-methodical manual. Moscow: GEOTAR-Media; 2016. (in Russian)]
  18. Lee T.H., Liu C.H., Huang C.C., Wu Y.L., Shih Y.T., Ho H.N. et al. Serum anti-Müllerian hormone and estradiol levels as predictors of ovarian hyperstimulation syndrome in assisted reproduction technology cycles. Hum. Reprod. 2008; 23(1): 160-7.
  19. Humaidan P., Quartarolo J., Papanikolaou E.G. Preventing ovarian hyperstimulation syndrome: guidance for the clinician. Fertil. Steril. 2010; 94(2): 389-400.
  20. Kwee J., Elting M.E., Schats R., McDonnell J., Lambalk C.B. Ovarian volume and antral follicle count for the prediction of low and hyper responders with in vitro fertilization. Reprod. Biol. Endocrinol. 2007; 5: 9.
  21. Корнеева И.Е., Калинина Е.А., Сароян Т.Т., Смольникова В.Ю., Серебренникова К.Г., Пырегов А.В., Сухих Г.Т. Федеральные клинические рекомендации. Диагностика и лечение синдрома гиперстимуляции синдрома яичников. М.: Российское общество акушеров-гинеколо гов; 2013. [Korneeva I.E., Kalinina E.A., Saroyan T.T., Smolnikova V.Yu., Serebrennikova K.G., Pyregov A.V., Sukhikh G.T. Federal clinical guidelines. Diagnosis and treatment of the syndrome of hyperstimulation of ovarian syndrome. Moscow: Russian Society of Obstetricians and Gynecologists; 2013. (in Russian)]
  22. Sandrim V.C., Palei A.C., Cavalli R.C., Araujo F.M., Ramos E.S., Duarte G., Tanus-Santos J.E. Vascule endothelial growth factor genotypes and haplotypes are associated with preeclampsia but not with gestational hypertension. Mol. Hum. Reprod. 2009; 15(2): 115-20.
  23. Zhai R., Gong M.N., Zhou W., Thompson T.B., Kraft P., Su L., Christiani D.C. Genotypes and haplotypes of the VEGF gene are associated with higher mortality and lower VEGF plasma levels in patients with ARDS. Thorax. 2007; 62(8): 718-22.
  24. Сухих Г.Т., Кесова М.И., Донников А.Е., Кан Н.Е., Болотова О.В., Коган Е.А., Демура Т.А., Климанцев И.В., Амирасланов Э.Ю., Санникова М.В., Абрамов Д.Д., Кадочникова В.В., Орджоникидзе Н.В., Трофимов Д.Ю. Роль полиморфизма гена эстрогенового рецептора альфа (ESR 1) в формировании неполноценного рубца на матке после кесарева сечения. Акушерство и гинекология. 2011; 4: 40-4. [Sukhikh G.T., Kesova M.I, Donnikov A.E., Kan N.E., Bolotova O.V., Kogan E.A., Demura T.A., Klimantsev I.V., Amiraslanov E.Yu., Sannikova M.V., Abramov D.D., Kadochnikova V.V., Ordzhonikidze N.V., Trifonov D.Yu. Role of estrogen receptor-alpha (ESR1) gene polymorphism in inadequate uterine scar formation after cesarean section. Akusherstvo i Ginekologiya/Obstetrics and Gynecology. 2011; (4): 40-4. (in Russian)
  25. Tobias J.H., Steer C.D., Vilarino-Güell C., Brown M.A. Estrogen receptor alpha regulates area-adjusted bone mineral content in late pubertal girls. J. Clin. Endocrinol. Metab. 2007; 92(2): 641-7.
  26. Monteiro J.P., Wise C., Morine M.J., Teitel C., Pence L., Williams A. et al. Methylation potential associated with diet, genotype, protein, and metabolite levels in the Delta Obesity Vitamin Study. Genes Nutr. 2014; 9(3): 403.
  27. Nouri K., Haslinger P., Szabo L., Sator M., Schreiber M., Schneeberger C., Pietrowski D. Polymorphisms of VEGF and VEGF receptors are associated with the occurrence of ovarian hyperstimulation syndrome (OHSS)-a retrospective case-control study. J. Ovarian Res. 2014; 7: 54.
  28. Hanevik H.I., Hilmarsen H.T., Skjelbred C.F., Tanbo T., Kahn J.A. Increased risk of ovarian hyperstimulation syndrome following controlled ovarian hyperstimulation in patients with vascular endothelial growth factor +405 cc genotype. Gynecol. Endocrinol. 2012; 28(11): 845-9.
  29. Ayvaz O.U., Ekmekçi A., Baltaci V., Onen H.I., 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(9-10): 503-10.
  30. Altmäe S., Hovatta O., Stavreus-Evers A., Salumets A. Genetic predictors of controlled ovarian hyperstimulation: where do we stand today? Hum. Reprod. Update. 2011; 17(6): 813-28.

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