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Background  Single nucleotide variants (SNVs)  FSHB :c.-211G>T,  FSHR :c.919G>A, and  FSHR :c.2039G>A were reported to be associated with the variability in FSH and LH levels, and  in vitro  fertilization (IVF) outcomes. In this study, we aimed to evaluate the effects of  FSHB :c.-211G>T,  FSHR :c.919G>A, and  FSHR: c.2039G>A variants, alone and combined, on the hormonal profile and reproduction outcomes of women with endometriosis.    Methods  A cross-sectional study was performed comprising 213 infertile Brazilian women with endometriosis who underwent IVF treatment. Genotyping was performed using TaqMan real-time PCR. Variables were compared according to the genotypes of each variant and genetic models, and the combined effects of the SNVs were evaluated using the multifactorial dimensionality reduction method.    Results    FSHB :c.-211G>T affected LH levels in women with overall endometriosis and minimal/mild disease.  FSHR :c.919G>A affected FSH levels in women with overall endometriosis and the number of oocytes retrieved in those with moderate/severe endometriosis. Moreover, the  FSHR :c.2039G>A affected FSH levels in women with overall endometriosis, LH levels and total amount of rFSH in those with minimal/mild disease, and number of follicles and number of oocytes retrieved in those with moderate/severe endometriosis. No effect on hormone profile or reproductive outcomes was observed when the genotypes were combined.    Conclusions  Variants of the  FSHB  and  FSHR  genes separately interfered with the hormonal profiles and IVF outcomes of women with endometriosis.

Effects of FSHR and FSHB Variants on Hormonal Profile and Reproductive Outcomes of Infertile Women With Endometriosis