The CYP17 MspA1 polymorphism is not associated with an increased risk of uterine leiomyomas in a Japanese population.

The CYP17 gene is thought to be a candidate gene for susceptibility to hormone-related diseases. A single (T?C) nucleotide polymorphism in the promoter region of CYP17 is speculated to influence its transcription. The present study was conducted to investigate the possible association between uterine leiomyomas and CYP17 gene polymorphism in a Japanese population. Genotyping analysis of the CYP17 gene was performed in 138 leiomyoma cases, 183 unaffected controls and 179 population controls using polymerase chain reaction and restriction fragment length polymorphism analysis. No significant difference in CYP17 genotype distribution was noted between leiomyoma cases and controls. Women carrying the A2 allele were not at an increased risk of uterine leiomyoma compared with those carrying the A1 allele in unaffected controls (odds ratio, 1.26; 95% confidence interval, 0.92-1.72) and those carrying the A1 allele in population controls (odds ratio, 0.99; 95% confidence interval, 0.72-1.36). No significant difference in allele frequencies were found between leiomyoma cases and controls. These findings suggest that CYP17 gene polymorphism is unlikely to be associated with an increased risk of uterine leiomyomas in a Japanese population.