Authors Keywords: FSHR gene polymorphism, Thr307Ala, Asn680Ser, ovarian reserve, ovulation induction, infertility Abstract

Background:
Genetic polymorphisms in Follicle-Stimulating Hormone Receptor (FSHR) gene, has been implicated in modulating ovarian response to controlled ovarian stimulation in women undergoing IVF. However, their clinical relevance in infertile women undergoing ovulation induction remains unclear, especially in Indian population.

Objectives:
To evaluate association of FSHR gene polymorphisms Thr307Ala (rs6165) and Asn680Ser (rs6166) with ovarian reserve markers and fertility outcomes in infertile women undergoing ovulation induction cycles.

Methods:
This prospective observational study was conducted in Department of Obstetrics and Gynaecology from August 2021 to May 2025. Eighty-two infertile women and twenty-five fertile controls were enrolled as per inclusion and exclusion criteria. Participants underwent Day2-5 hormonal assessment (AMH, FSH, LH, E2), Antral Follicle Count (AFC), and FSHR genotyping using PCR-RFLP for Thr307Ala (rs6165) and Asn680Ser (rs6166). Ovulation induction with letrozole was given for maximum four cycles.

Results:
No significant difference was found in distribution of FSHR genotypes or allele frequencies between infertile and fertile women. Genotype frequencies were in Hardy-Weinberg equilibrium except for Asn680Ser (rs6166)  in controls. Ovarian reserve parameters did not significantly differ across genotypes, except for higher AMH in fertile controls with AA genotype of Thr307Ala (rs6165) (p = 0.017) and higher AFC among cases (p=0.0001). Letrozole-induced ovulation and pregnancy rates (12%) were comparable across all genotypes.

Conclusion:
FSHR polymorphisms Thr307Ala (rs6165) and Asn680Ser (rs6166) do not significantly influence ovarian reserve markers or clinical outcomes in infertile Indian women undergoing ovulation induction. Further studies with larger, ethnically diverse populations and controlled ovarian stimulation protocols are warranted.

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1.

Bahadur A, Manisha Naithani, Shivashish Dobhal, Priyanka R, Gupchee Singh, Shalinee Rao, et al. Evaluation of FSH Receptor Gene Polymorphisms among infertile women and its correlation with Ovarian Reserve Markers and fertility outcomes: A Prospective Observational Study from Northern India. Indian Journal of Community Health [Internet]. 2025 Aug. 31 [cited 2025 Nov. 4];37(4). Available from: http://www.iapsmupuk.org/journal/index.php/IJCH/article/view/3380

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