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Genetic Predictors of Response
• FSH receptor polymorphisms – most studied
- 307Ala & 680Ser: require more FSH, worse outcome
- population variations
- genotyping may allow tailoring of stimulation regimen
• Folate metabolism – Ethnic variations
- folate deficiencyfertility,ovarian function, oocyte quality
- MTHFR polymorphisms associated with defective DNA methylation
- MTHFR 677CT better quality embryos,  chance pregnancy than 677CC
• Vitamin D – Seasonal variations
- vital for follicular development; modulates androgens, AMH
• Many more genes involved:
Genetic Predictors of Response
• FSH receptor polymorphisms – most studied
- 307Ala & 680Ser: require more FSH, worse outcome
- population variations
- genotyping may allow tailoring of stimulation regimen
• Folate metabolism – Ethnic variations
- folate deficiencyfertility,ovarian function, oocyte quality
- MTHFR polymorphisms associated with defective DNA methylation
- MTHFR 677CT better quality embryos,  chance pregnancy than 677CC
• Vitamin D – Seasonal variations
- vital for follicular development; modulates androgens, AMH
• Many more genes involved:
• LH receptor, LH β polypeptide
• Cholesterol SCC enzyme (CYP11A1) • Aromatase (CYP19A1)
• Oestrogen receptors
• Progesterone receptors
• TGFβ superfamily, GDF9, BMP15
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