title: Association of the CYP17 gene polymorphism with risk for uterine leiomyoma in Brazilian women.
abstract: BACKGROUND
  Uterine leiomyoma is the most common pelvic tumor in women of reproductive age. It is well established that endogenous sex hormones are involved in disease pathogenesis, and polymorphisms in genes encoding enzymes which act in the metabolism of steroid hormones, such as that for cytochrome P450c17alpha enzyme (CYP17), may therefore play a role in fibroid genesis. Variations in this gene have been thought to influence the susceptibility to hormone-related diseases. A single nucleotide polymorphism (T-->C) [rs1042386] in promoter region of CYP17 may 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 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).
  
  
  CONCLUSIONS
  These findings suggest that the CYP17 gene polymorphism studied is unlikely to be associated with risk for uterine leiomyoma in Brazilian women.
authors.affiliation: Universidade Federal de Sao Paulo, Sao Paulo, Brazil. lucindacev@hotmail.com
authors.forename: Lucinda Coelho Esperança
authors.initials: LC
authors.lastname: Vieira
authors.forename: Mariano Tamura Vieira
authors.initials: MT
authors.lastname: Gomes
authors.forename: Rodrigo de Aquino
authors.initials: Rde A
authors.lastname: Castro
authors.forename: Naiara Correia Nogueira
authors.initials: NC
authors.lastname: de Souza
authors.forename: Ismael Dale Cotrim Guerreiro
authors.initials: ID
authors.lastname: da Silva
authors.forename: Edmund Chada
authors.initials: EC
authors.lastname: Baracat
authors.forename: Manoel Joao Batista Castello
authors.initials: MJ
authors.lastname: Girão
mesh_terms: D000368:Aged; D001938:Brazil; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007889:Leiomyoma / Q000235:genetics*; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D013254:Steroid 17-alpha-Hydroxylase / Q000235:genetics*; D014594:Uterine Neoplasms / Q000235:genetics*
chemical_list: D013254:Steroid 17-alpha-Hydroxylase