Cytochrome P450c17alpha 5'-untranslated region *T/C polymorphism in endometriosis

J Genet. 2004 Aug;83(2):189-92. doi: 10.1007/BF02729896.


Estrogen plays a role in the pathogenesis of endometriosis. The CYP17 gene codes for the cytochrome P450c17alpha enzyme that is involved in the estrogen biosynthesis. We aimed to investigate if CYP17 polymorphism could be used as marker to predict the susceptibility of endometriosis. Women were divided into two groups: (1) severe endometriosis (n=119); (2) non-endometriosis groups (n=128). A 169-bp fragment encompassing the T/C polymorphic site in 5'-untranslated promoter region (5'-UTR) of the CYP17 was amplified by the polymerase chain reaction, treated with restriction enzyme MspA1I, and electrophoresis. The polymorphism was divided into restriction-enzyme indigestible (T homozygote), T/C heterozygote, and digestible (C homozygote). Genotypes and allelic frequencies for this polymorphism in both groups were compared. We observed a higher but non-significant percentage of T homozygote in the endometriosis women compared with the non-endometriosis women. Proportions of T homozygote / heterozygote / C homozygote for CYP17 in both groups were: (1) 26.1/46.2/27.7% and (2) 17.2/45.3/37.5% (p-value=0.131). T allele was related with higher susceptibility of endometriosis. T and C allele frequencies in both groups were: (1) 49.2/50.8%; (2) 39.8/60.2% (p-value=0.046). Despite the CYP17* T allele appearing to be associated with a trend of increased risk of endometriosis, CYP17 5'-UTR gene polymorphism might not be a useful marker for prediction of endometriosis susceptibility.

MeSH terms

  • 5' Untranslated Regions
  • Base Sequence
  • DNA / genetics
  • Endometriosis / enzymology*
  • Endometriosis / genetics*
  • Female
  • Gene Frequency
  • Genetic Markers
  • Humans
  • Polymorphism, Single Nucleotide
  • Steroid 17-alpha-Hydroxylase / genetics*


  • 5' Untranslated Regions
  • Genetic Markers
  • DNA
  • Steroid 17-alpha-Hydroxylase