Session: SAT 498-531-Female Repro Endocrinology & Case Reports
Poster Board SAT-504
Patients: We performed a pilot study in a single centre cohort of adult female Caucasian childhood cancer survivors (n=176), determined serum AMH levels (a marker of ovarian reserve) and studied single nucleotide polymorphisms (SNPs) previously reported to be associated with age at natural menopause: BRSK1 (rs1172822), ARHGEF7 (rs7333181), MCM8 (rs236114), PCSK1 (rs271924), IGF2R (rs9457827) and TNF (rs909253). Association analysis was performed using the additive genetic model. Linear regression was conducted to assess the effect of significant polymorphisms in two previously published menopause prediction models.
Results: The CT genotype of rs1172822 in the BRSK1 (BR serine/ threonine kinase 1) gene was negatively associated with serum AMH levels in our cohort (Odds Ratio=3.15, 95% Confidence Interval 1.35-7.32, p=0.008) and significantly associated with the predicted age at menopause (p=0.04). The other five SNPs were not associated with serum AMH levels.
Conclusion: Our findings support the idea that previously identified polymorphisms that are associated with the age at menopause in the general population may also have an effect on menopause onset in female CCS. This pilot study appears to show a new aspect of the influence of genetic variants on ovarian reserve following treatment of childhood cancer and should be investigated further in a nationwide GWA study. Eventually, this information can help us to improve counselling on fertility preservation prior to cancer treatment, based on genetic factors in individual patients.
Disclosure: JSEL: Researcher, Ferring Pharmaceuticals, Researcher, Merck BV, Founder, Genovum. Nothing to Disclose: WV, MMV, LS, RP, AU, JAV
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