Association of estrogen receptor gene polymorphisms with endometriosis

Fertil Steril. 1999 Jul;72(1):164-6. doi: 10.1016/s0015-0282(99)00198-3.


Objective: To explore the association of the estrogen receptor two-allele (point) polymorphism and multiallele (microsatellite) polymorphism with endometriosis.

Design: Case-control study.

Setting: Genetics and Endoscopy Unit, Department of Obstetrics and Gynecology, Ioannina University HOSPITAL, Ioannina, Greece.

Patient(s): Fifty-seven women with surgically and histologically diagnosed endometriosis of stages I-IV.

Intervention(s): Diagnostic laparoscopy.

Main outcome measure(s): Frequency and distribution of the estrogen receptor gene polymorphisms.

Result(s): There was a statistically significant difference between the patients and the controls in the frequency of the two-allele Pvu II polymorphism (0.72 vs. 0.49) and in the median repeats of the (TA)n multiallele polymorphism (15 vs. 20 repeats). In both groups, linkage was found between the fewer (TA)n repeats (range, 12-19) and the positive Pvu II polymorphism.

Conclusion(s): The variability of the estrogen receptor gene likely contributes to the pathogenesis of endometriosis.

MeSH terms

  • Adult
  • Alleles
  • Case-Control Studies
  • Endometriosis / genetics*
  • Female
  • Gene Frequency
  • Genetic Linkage
  • Homozygote
  • Humans
  • Polymorphism, Genetic / genetics*
  • Receptors, Estrogen / genetics*
  • Repetitive Sequences, Nucleic Acid


  • Receptors, Estrogen