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

Fatemeh  Dehghanizadeh; Mahdieh  Yavari; Seyed Mohsen  Miresmaeili; Narges  Nikoonahad Lotfabadi; Fatemeh  Montazeri

doi:10.18502/wjpn.v7i2.20449

Fatemeh Dehghanizadeh Department of Biology, Science and Arts University, Yazd, Iran
Mahdieh Yavari Dr. Mazaheri’s Medical Genetics Lab, Yazd, Iran
Seyed Mohsen Miresmaeili Department of Biology, Science and Arts University, Yazd, Iran
Narges Nikoonahad Lotfabadi Department of Biology, Science and Arts University, Yazd, Iran
Fatemeh Montazeri Recurrent Abortion Center, Reproductive Science Institute, Shahid Sadoughi University of Medical Science, Yazd, Iran

DOI: https://doi.org/10.18502/wjpn.v7i2.20449

Keywords: Anti-Müllerian Hormone, FSH, Ovarian Reserve, Fertilization, In Vitro, Polymorphism

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 case–control study, 232 women with poor ovarian response (cases) according to the POSEIDON criteria and 232 women with normal ovarian response (controls), all undergoing IVF, were enrolled. Demographic, hormonal, and ovarian reserve parameters, including age, body mass index (BMI), baseline follicle-stimulating hormone (FSH), AMH, and antral follicle count (AFC), were recorded. Genotyping for the AMH rs10407022 (G/T) polymorphism was performed using polymerase chain reaction (PCR). Logistic regression, adjusted for age and BMI, was employed to assess associations.

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.