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

Author(s)

Bianco, Bianca ^{[1, 2]} ; Loureiro, Flavia Altheman ^[1] ; Trevisan, Camila Martins ^[1] ; Peluso, Carla ^[1] ; Christofolini, Denise Maria ^[1] ; Montagna, Erik ^[3] ; Lagana, Antonio Simone ^[4] ; Barbosa, Caio Parente ^[1]

Affiliation

^[1] Ctr Univ FMABC, Dept Collect Hlth, Discipline Sexual & Reprod Hlth & Populat Genet, Fac Med ABC, Santo Andre, SP - Brazil

^[2] Inst Israelita Ensino & Pesquisa Albert Einstein, Dept Urol, Sao Paulo - Brazil

^[3] Ctr Univ FMABC, Postgrad Program Hlth Sci, Fac Med ABC, Santo Andre, SP - Brazil

^[4] Univ Insubria, Filippo Del Ponte Hosp, Dept Obstet & Gynecol, Varese - Italy

• Document type: Journal article
• Source: FRONTIERS IN ENDOCRINOLOGY; v. 12, SEP 30 2021.
• Web of Science Citations: 0

Abstract

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.</p> 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.</p> 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.</p> Conclusions Variants of the FSHB and FSHR genes separately interfered with the hormonal profiles and IVF outcomes of women with endometriosis.</p> (AU)

• FAPESP's process: 16/25953-9 - Evaluation of mutations and/or polymorphisms in candidate genes by next generation sequence in infertile women with and without endometriosis and its correlation with results of controlled ovarian hyperstimulation in assisted human reproduction treatments
• Grantee: Bianca Alves Vieira Bianco
• Support Opportunities: Regular Research Grants