Implication of FSHB rs10835638 variant in endometriosis in Brazilian women

Autor(es)

Bianca Bianco ^[1] ; Flávia Altheman Loureiro ^[2] ; Camila Martins Trevisan ^[3] ; Denise Maria Christofolini ^[4] ; Antonio Simone Laganà ^[5] ; Caio Parente Barbosa ^[6]

Afiliação do(s) autor(es)

^[1] Centro Universitário FMABC - Brasil

^[2] Centro Universitário FMABC - Brasil

^[3] Centro Universitário FMABC - Brasil

^[4] Centro Universitário FMABC - Brasil

^[5] University of Palermo. Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties. Unit of Gynecologic Oncology, ARNAS “Civico-Di Cristina-Benfratelli” - Itália

^[6] Centro Universitário FMABC - Brasil

• Tipo de documento: Artigo Científico
• Fonte: Einstein (São Paulo); v. 21, 2023-10-27.

Resumo

ABSTRACT Objective The follicle-stimulating hormone subunit beta gene rs10835638 variant (c.-211G>T) may have detrimental effects on fertility and protective effects against endometriosis. A case-control analysis was performed, aiming to investigate the possible relationship between this variant and the development and/or progression of endometriosis. Methods This study included 326 women with endometriosis and 482 controls without endometriosis, both confirmed by inspection of the pelvic cavity during surgery. Genotyping was performed using a TaqMan real-time polymerase chain reaction assay. Genotype and allele frequencies and genetic models were compared between the groups. Results The genotype and allele frequencies of the rs10835638 variant did not differ between women with and those without endometriosis. Subdividing the endometriosis group into fertile and infertile groups did not result in a significant difference in these frequencies. However, the subgroup with minimal/mild endometriosis had a higher frequency of the GT genotype than the Control Group, regardless of fertility. The T allele was significantly more common in women with minimal/mild endometriosis than in the Control Group in the recessive model. Conclusion The T allele is associated with the development of minimal/mild endometriosis in Brazilian women. (AU)

• Processo FAPESP: 17/01202-7 - Busca de mutações novas em genes candidatos ao desenvolvimento e progressão da endometriose por meio de sequenciamento de nova geração
• Beneficiário: Caio Parente Barbosa
• Modalidade de apoio: Auxílio à Pesquisa - Regular