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Human controlled ovarian hyperstimulation outcome is a polygenic trait
Francisco de Castro1, Francisco J Morón, Luis Montoro
1Unidad de Reproducción Humana Asistida, Hospital Universitario Príncipe de Asturias, Alcalá de Henares, Madrid, Allat Médica, Madrid and Departamento de Genómica Estructural. Neocodex, Sevilla, Spain.
Pharmacogenetics
|April 30, 2004
Summary
Genetic markers in FSHR, ESR1, and ESR2 genes influence ovarian response to follicle-stimulating hormone (FSH) during controlled ovarian stimulation (COS). Specific genotype patterns may predict poor responders, aiding personalized fertility treatments.
Area of Science:
- Reproductive Endocrinology
- Human Genetics
- Pharmacogenomics
Background:
- Controlled ovarian stimulation (COS) is crucial for fertility treatments.
- Individual responses to follicle-stimulating hormone (FSH) vary significantly.
- Identifying genetic factors influencing FSH efficacy is essential for optimizing COS outcomes.
Purpose of the Study:
- To investigate the association between specific gene polymorphisms and the efficacy of FSH in women undergoing COS.
- To determine if genetic variations in FSHR, CYP19, ESR1, and ESR2 influence ovarian response to FSH.
Main Methods:
- Single nucleotide polymorphism (SNP) analysis was performed on 170 women undergoing COS.
- Women were classified as poor responders (≤3 follicles) or normal responders (>3 follicles).
- Two-point and multi-locus genetic association studies were conducted using Sumstat and PM algorithms.
Main Results:
- Significant evidence of genetic interaction between FSHR, ESR1, and ESR2 markers was found in relation to COS outcome (P = 0.0015).
- Specific genotype patterns in these genes were associated with ovarian response to FSH.
- An oligogenic model involving FSHR, ESR1, and ESR2 markers showed potential in explaining poor FSH response.
Conclusions:
- A discrete set of genes, including FSHR, ESR1, and ESR2, controls human ovarian response to FSH.
- Specific genetic profiles may predict poor responders to FSH during COS.
- These findings suggest a genetic basis for variable FSH efficacy and support the potential for personalized fertility treatments.