Análise do polimorfismo do gene CYP 17 como fator relacionado ao desenvolvimento do leiomioma uterino

• Ano de defesa: 2009
• Autor(a) principal: Vieira, Lucinda Coelho Esperança [UNIFESP]
• Tipo de documento: Dissertação
• Tipo de acesso: Acesso aberto
• Idioma: por
• Instituição de defesa: Universidade Federal de São Paulo (UNIFESP)
• Palavras-chave em Português: Steroid 17-alpha-Hydroxylase; Risk factors; Polymorphism, genetic; Leiomyoma; Steroids; CYP 17; Esteróides sexuais; Fator de risco; Polimorfismo; Leiomioma uterino; Esteroide 17-alfa-Hidroxilase; Esteroides; Leiomioma; Polimorfismo genético
• Link de acesso: https://repositorio.unifesp.br/handle/11600/8929

Objective: Uterine leiomyoma is the most common pelvic tumor in women of reproductive age. It has been well established that endogenous sex hormones are involved in the pathogenesis of the disease, and polymorphisms in genes encoding for enzymes that act in the steroid hormones metabolism, as the CYP17, may therefore play a role in the genesis of fibroids. Variations in this gene have been thought to be candidates influencing the susceptibility to hormone-related diseases. A single nucleotide polymorphism (T→C) [rs1042386] in the promoter region of CYP17 is speculated to alter its transcription. The present study was conducted to investigate the association between this polymorphism and the presence of uterine leiomyoma in Brazilian women. Methods: Genotyping of the CYP17 was performed in 121 uterine fibroid patients and 120 unaffected women using polymerase chain reaction and restriction fragment length polymorphism analysis. Results: No significant difference in the CYP17 genotype distribution was noted between cases and controls (p=0.165) Conclusion: These findings suggest that the CYP17 gene polymorphism studied is unlikely to be associated with risk for uterine leiomyoma in Brazilian women.