Estrogen receptor alpha dinucleotide repeat and cytochrome P450c17alpha gene polymorphisms are associated with susceptibility to endometriosis

Fertil Steril. 2005 Mar;83(3):567-72. doi: 10.1016/j.fertnstert.2004.07.977.


Objective: To investigate the association of endometriosis with estrogen receptor alpha (ER alpha) and cytochrome P450c17alpha (CYP17) gene polymorphisms in light of the fact that estrogen plays a role in the pathogenesis of endometriosis and the CYP17 enzyme is involved with estrogen biosynthesis.

Design: Prospective study.

Setting: Genetics and gynecology units.

Patient(s): All patients were divided into two groups: group 1, women with endometriosis (n = 119); group 2, normal controls (n = 108).

Intervention(s): A dinucleotide (thymine-adenine [TA]) repeat polymorphism lying upstream of the ER alpha gene and A1/A2 polymorphism of the CYP17 gene were amplified by polymerase chain reaction, enzyme restriction, and electrophoresis.

Main outcome measure(s): The ER genotypes were classified into A through T (TA repeats, 10-29). The CYP17 genotypes included indigestible (A1 homozygote), heterozygote, and digestible (A2 homozygote). We compared these polymorphism distributions in both groups.

Result(s): The percentage of genotypes D-G (TA, 13-16) in both groups were 10.5%, 29.4%, 13.0%, and 11.3% in group 1 and 7.9%, 16.7%, 19.9%, and 17.6% in group 2. The genotype E (14 TA repeats) is associated with a higher risk of endometriosis. Proportions of A1 homozygote/heterozygote/A2 homozygote for CYP17 were 26.1%/46.2%/27.7% for group 1 and 14.8%/44.5%/40.7% for group 2, respectively. The A1 homozygote and allele were associated with a higher susceptibility of endometriosis.

Conclusion(s): ER alpha* 14 TA repeats and the CYP17* A1 allele are associated with an increased risk of endometriosis. Both polymorphisms are useful markers for predicting endometriosis susceptibility.

MeSH terms

  • Dinucleotide Repeats
  • Endometriosis / epidemiology*
  • Endometriosis / genetics*
  • Estrogen Receptor alpha / genetics*
  • Female
  • Genetic Predisposition to Disease / epidemiology
  • Genotype
  • Heterozygote
  • Homozygote
  • Humans
  • Polymorphism, Single Nucleotide*
  • Risk Factors
  • Steroid 17-alpha-Hydroxylase / genetics*


  • Estrogen Receptor alpha
  • Steroid 17-alpha-Hydroxylase