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Association of AMH and AMHR2 gene polymorphisms with ovarian response and pregnancy outcomes in Indian women

  • Genetics
  • Published:
Journal of Assisted Reproduction and Genetics Aims and scope Submit manuscript

Abstract

Purpose

To evaluate the association of single-nucleotide polymorphisms (SNPs) in the anti-Müllerian hormone (AMH) and AMH type II receptor (AMHR2) genes with ovarian response and clinical pregnancy outcomes in women undergoing controlled ovarian hyperstimulation.

Methods

In this prospective study, we genotyped AMH polymorphisms (c. -649 T > C, c. 146 T > G, c. 252 G > A, and c. 303 G > A) in 365 women and AMHR2 polymorphisms (c. -482 A > G, c. 622–6 C > T, c. 4952 G > A, c. 10 A > G) in 80 women undergoing controlled ovarian hyperstimulation for IVF.

Results

Higher doses of exogenous FSH and lower numbers of preovulatory follicles were noted in women having AMH c. -649 T > C and AMH c. -146 T > G polymorphisms, respectively. Overall, we found that the presence of a polymorphic genotype (homozygous or heterozygous) at positions c. -649 T > C, c. 146 T > G, c. 252 G > A, and c. 303 G > A in the AMH gene was associated with higher doses of FSH for ovulation induction (p < 0.001). Interestingly, a higher live birth rate was noted in women with a homozygous polymorphic genotype for all four AMH SNPs investigated while none of the women showing a homozygous polymorphic genotype at all AMHR2 SNPs investigated in this study had a live birth.

Conclusion

Our results show that presence of AMHR2 SNPs (c. 482 A > G, c. 622–6 C > T, c. 4952 G > A, and c. 10 A > G) negatively correlate with live birth rate. However, these findings need to be validated by using larger sample size.

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Funding

SC is the recipient of the Department of Health Research Young Scientist Fellowship (YSS/2019/000118/PRCYSS). SDM was the recipient of Grant Number No. 82/3/2012/PHGEN(TF)/BMS, provided by ICMR.

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Authors and Affiliations

  1. Molecular and Cellular Biology Laboratory, ICMR-National Institute for Research in Reproductive and Child Health, Indian Council of Medical Research (ICMR), JM Street, Parel, Mumbai, 400012, India

    Stacy Colaco & Deepak Modi

  2. Division of Structural Biology, ICMR-National Institute for Research in Reproductive and Child Health, Indian Council of Medical Research (ICMR), JM Street, Parel, Mumbai, 400012, India

    Swati Achrekar, Akshata Patil, Unnati Sawant & Smita D. Mahale

  3. Fertility Clinic and IVF Center, Mumbai, 400 007, India

    Sadhna Desai & Vijay Mangoli

  4. Department of Reproductive Medicine, Shreyas Hospital and Sushrut Assisted Conception Clinic, Kolhapur, Maharashtra, India

    Padma Rekha Jirge

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  1. Stacy Colaco
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Corresponding authors

Correspondence to Deepak Modi or Smita D. Mahale.

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This manuscript bears the ID: RA/1216/63–2022.

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• The subjects in this trial have not concomitantly been involved in other randomized trial

• Data regarding any of the subjects in the study has not been previously published unless specified.

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Colaco, S., Achrekar, S., Patil, A. et al. Association of AMH and AMHR2 gene polymorphisms with ovarian response and pregnancy outcomes in Indian women. J Assist Reprod Genet 39, 1633–1642 (2022). https://doi.org/10.1007/s10815-022-02541-w

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  • DOI: https://doi.org/10.1007/s10815-022-02541-w

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