Analysis of the AMH rs10407022 Polymorphism Reveals Monomorphism in an Iranian IVF Cohort Consistent with POSEIDON Stratification Criteria: A Case-Control Study

Document Type : Original Article

Authors

1 Abortion Research Center, Yazd Reproductive Sciences Institute, Shahid Sadoughi University of Medical Sciences, Yazd, Iran

2 Department of Biology, Science and Arts University, Yazd, Iran

3 Dr. Mazaheri’s Medical Genetics Lab, Yazd, Iran

Abstract

Background: Poor ovarian response (POR) during in vitro fertilization (IVF) remains a major challenge, adversely affecting both the emotional well‑being of patients and clinical outcomes. Genetic polymorphisms, particularly in the anti‑Müllerian hormone (AMH) gene, such as rs10407022, have been suggested to contribute to POR. This study aimed to investigate the association between the rs10407022 polymorphism and POR, as defined by the POSEIDON criteria, among Iranian women.
Methods: In this analytical cross-sectional study, 232 women under 45 years with poor ovarian response according to the POSEIDON criteria and 56 women with normal ovarian response (controls) were enrolled. Demographic, hormonal, and ovarian reserve parameters, including age, BMI, FSH, AMH, and AFC, were recorded. Genotyping of the AMH rs10407022 (G/T) polymorphism was performed using ARMS-PCR, and associations were assessed using logistic regression adjusted for age and BMI.
Results: Cases exhibited significantly lower AMH levels (0.9 ± 0.4 ng/mL vs. 2.6 ± 0.8 ng/mL, p < 0.001), lower AFC, and higher day‑3 FSH compared to controls. Notably, all participants in both groups had only the GT genotype for rs10407022, with no GG or TT genotypes observed. This finding indicates that the rs10407022 locus was monomorphic in this Iranian cohort, precluding any significant association with POR.
Conclusion: The AMH rs10407022 polymorphism was monomorphic in this Iranian population, exhibiting only the GT genotype. While significant differences in hormonal markers were observed between POR and normal responders, this single nucleotide polymorphism (SNP) did not account for the variability in ovarian response. Further large-scale, multiethnic studies are warranted to elucidate the genetic underpinnings of POR.

Keywords

References

  1. Ferraretti AP, et al. ESHRE consensus on the definition of 'poor response' to ovarian stimulation for in vitro fertilization. Hum Reprod. 2011;26(7):1616-24.
  2. Busnelli A, et al. The burden of poor ovarian response on women and society. Fertil Steril. 2020;114(5):921-32.
  3. Poseidon Group. The POSEIDON criteria: a new classification for low prognosis patients in ART. Front Endocrinol. 2016;7:43.
  4. Alviggi C, et al. The POSEIDON stratification: a new way to manage poor ovarian responders. Reprod Biomed Online. 2019;38(2):153-60.
  5. La Marca A, Sunkara SK. Individualization of controlled ovarian stimulation in IVF using ovarian reserve markers. Hum Reprod Update. 2014;20(1):124-40.
  6. Kevenaar ME, et al. A functional anti-Müllerian hormone gene polymorphism is associated with follicle number and outcome in IVF. J Clin Endocrinol Metab. 2008;93(12):4800-6.
  7. Gruijters MJ, et al. Anti-Müllerian hormone and its receptors. Mol Cell Endocrinol. 2003;211(1-2):85-90.
  8. Zhang Y, et al. The effect of AMH and its receptor gene polymorphisms on ovarian response in IVF patients. J Assist Reprod Genet. 2020;37(5):1123-32.
  9. Hazlett WD, et al. AMH gene polymorphism and ovarian response in IVF cycles. Fertil Steril. 2018;110(5):925-31.
  10. Wang L, et al. Association of AMH gene polymorphisms with poor ovarian response in Chinese women. Reprod Sci. 2019;26(5):678-84.
  11. Conforti A, et al. Management of poor responders in IVF: is there a place for a personalized approach? J Assist Reprod Genet. 2021;38(5):1027-39.
  12. Broer SL, et al. AMH and AFC as predictors of excessive response in controlled ovarian stimulation. Hum Reprod Update. 2011;17(1):46-54.
  13. Esteves SC, et al. The POSEIDON concept: a new paradigm for managing low prognosis patients. JBRA Assist Reprod. 2018;22(3):246-50.
  14. Broekmans FJ, et al. Ovarian aging: mechanisms and clinical consequences. Endocr Rev. 2009;30(5):465-93.
  15. La Marca A, et al. FSH and LH levels in women with poor ovarian response. Reprod Biol Endocrinol. 2010;8:153.
  16. Poppe K, et al. Thyroid function and ovarian reserve in infertile women. Thyroid. 2020;30(4):523-31.
  17. Gleicher N, et al. The role of prolactin in reproduction. Fertil Steril. 2019;112(6):1019-25.
  18. Monteleone P, et al. Thyroid autoimmunity and IVF outcome. Reprod Biomed Online. 2018;36(6):615-21.
  19. Cimadomo D, et al. The POSEIDON criteria and ovarian response biomarkers. Hum Reprod. 2020;35(12):2639-53.
  20. Tehrani FR, Solaymani-Dodaran M, Azizi F. A population-based study of polycystic ovary syndrome in Iranian women: prevalence and associated factors. Int J Endocrinol Metab. 2013;11(2):70-76.
  21. Spencer DH, Tyagi M, Vallania F, et al. Genetic variation across ethnic groups: implications for genetic association studies in transplantation. Am J Transplant. 2017;17(3):690-698.
  22. Kowalski P, et al. AMH gene polymorphism and ovarian response in IVF cycles. Fertil Steril. 2018;110(5):925-31.
World Journal of Peri & Neonatology
Volume 7, Issue 2
October 2025

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History

  • Receive Date: 31 December 2025
  • Accept Date: 31 December 2025

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