Genetic Influences on Ovarian Response in Assisted Reproductive Technologies

Summary

Individual differences in ovarian response to controlled ovarian stimulation arise in large part from genetic variation in key hormonal pathways. Polymorphisms in the follicle-stimulating hormone receptor (FSHR), notably the Asn680Ser and Thr307Ala variants, alter receptor sensitivity to exogenous FSH and can predict oocyte yield and gonadotropin dose requirements. Variants in the β-subunit of FSH (FSHB), luteinizing hormone (LHB) and its receptor (LHCGR) further modulate follicular recruitment and maturation. Genetic differences in oocyte-derived factors such as anti-Müllerian hormone (AMH), its receptor (AMHR), and oocyte-secreted growth factors (for example BMP15) influence ovarian reserve and response kinetics. Estrogen receptor gene variants (ESR1, ESR2) also affect intra-follicular signalling and end-point markers of follicle quality. Integration of hormonal and functional biomarkers—AMH levels, antral follicle count (AFC) and basal FSH—with this genetic information enables more accurate stratification of patients into poor, normal and hyper-responder categories. Ultimately, understanding the interplay of these genetic determinants supports a personalised approach to gonadotropin dosing, enhances oocyte retrieval outcomes, minimises the risk of ovarian hyperstimulation syndrome and informs global best practice in assisted reproduction.

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Genetic Influences on Ovarian Response in Assisted Reproductive Technologies publication trend

The graph below shows the total number of articles in genetic influences on ovarian response in assisted reproductive technologies across all publications each year (not limited to Nature Index journals).

Technical terms

Single-nucleotide polymorphism (SNP): A variation at a single base pair in the genome that may alter gene function or regulation.

Controlled ovarian stimulation (COS): A protocol using exogenous gonadotropins to induce growth of multiple ovarian follicles in assisted reproduction.

Follicle-stimulating hormone receptor (FSHR): A protein on ovarian granulosa cells that binds FSH to regulate follicular development.

Anti-Müllerian hormone (AMH): A hormone secreted by small ovarian follicles, used clinically to assess ovarian reserve.

Antral follicle count (AFC): Ultrasound measurement of early follicles at the start of stimulation, reflecting the pool of recruitable follicles.

Pharmacogenomics: The study of how genetic variation affects individual responses to medications, enabling personalised treatment strategies.

References

  1. The Polymorphism Asn680Ser on the FSH Receptor and Abnormal Ovarian Response in Patients with Normal Values of AMH and AFC. International Journal of Molecular Sciences (2023).
  2. Pharmacogenetics of FSH Action in the Female. Frontiers in Endocrinology (2019).
  3. Association of Follicle-Stimulating Hormone Receptor Polymorphisms with Ovarian Response in Chinese Women: A Prospective Clinical Study. PLOS ONE (2013).
  4. ESR1 and ESR2 gene polymorphisms are associated with human reproduction outcomes in Brazilian women. Journal of Ovarian Research (2014).
  5. Hormonal, functional and genetic biomarkers in controlled ovarian stimulation: tools for matching patients and protocols. Reproductive Biology and Endocrinology (2012).
  6. Evaluating influence of the genotypes in the follicle-stimulating hormone receptor (FSHR) Ser680Asn (rs6166) polymorphism on poor and hyper-responders to ovarian stimulation: a meta-analysis. Journal of Ovarian Research (2014).
  7. Effect of Genetic Variants of Gonadotropins and Their Receptors on Ovarian Stimulation Outcomes: A Delphi Consensus. Frontiers in Endocrinology (2022).
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