Genetic markers of hormone receptors as predictors of assisted reproductive technologies outcomes in tubal-peritoneal infertility

Background. High variability in individual response to controlled ovarian stimulation remains one of the main challenges in assisted reproductive technologies, and the prognostic value of most studied genetic markers shows conflicting results.

Objective. To evaluate the association of gonadotropin and sex steroid receptor gene polymorphisms with clinical pregnancy rates in women with tuboperitoneal infertility undergoing in vitro fertilization programs.

Materials and methods. This prospective pilot study included 96 patients (25–35 years old) with tuboperitoneal infertility and normal ovarian reserve. Two groups were formed: Group 1 (n=48) — pregnancy on the first attempt; Group 2 (n=48) — patients with a history of three or more previous unsuccessful attempts. The patients received standardized therapy using a short protocol with gonadotropin-releasing hormone antagonists and recombinant FSH. Genotyping was performed using microarray analysis (Infinium Global Screening Array-24 v3.0, Illumina).

Results. For the rs3020394 polymorphism of the ESR1 gene, a protective association was established between the A/A genotype (p=0.025; OR=2.553; 95% CI 1.120-5.820) and a negative predictive value of the homozygous G/G genotype. An association was found between the heterozygous C/T genotype of the rs2234693 (PvuII) polymorphism in the ESR1 gene and an unfavorable IVF outcome (p=0.024; OR=0.593; 95% CI 0.170-0.890).

Conclusion. The identified associations demonstrate the need for the development and further implementation of pharmacogenetic testing in the comprehensive evaluation of patients with tuboperitoneal infertility as a tool for personalized medicine.

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