Received June 21, 2022
Accepted December 26, 2022

Objective: Single nucleotide variants have been implicated in the response to fertility treatment and a pharmacogenomic approach may help to customize therapy based on the patient's genome. We aimied to evaluate the effect, individual and combined, of SYCP2L (rs2153157:G>A) and TDRD3 (rs4886238:G>A) variants on ovarian reserve, response to controlled ovarian stimulation (COS) and reproductive outcomes of women underwent in vitro fertilization (IVF) treatment. Methods: A cross-sectional study easa performed that included 149 normoovulatory women underwent IVF treatment. Genotyping was performed using the TaqMan real-time polymerase chain reaction methodology. The clinical parameters and reproductive outcomes were compared according to the genotypes of the variants studied. Results: Considering ovarian reserve, there were no significant differences among SYCP2L or TDRD3 genotypes in terms of FSH levels and AFC; however, AMH levels were significantly different for carriers of both variants. Regarding SYCP2L rs2153157:G>A variant, lower AMH levels were observed in women carrying AA genotype compared to women carrying heterozygous genotype (p=0.01). Considering TDRD3 rs4886238:G>A variant, women carrying AA genotype presented higher AMH levels than carriers of GG and GA genotypes (p=0.025). Despite this, no difference was found regarding response to COS or any reproductive outcomes. Considering the combined effect of the variants, women carrier of heterozygous genotype of both variants presented a statistically increased AMH leves comparing to SYCP2L rs2153157 AA genotype carriers and TDRD3 rs4886238 GG genotype carriers (p=0.042). Conclusion: Individually and combined the SYCP2L rs2153157 and TDRD3 rs4886238 variants have an effect on AMH level.