Genotype distribution of estrogen receptor-alpha gene polymorphisms in Italian women with surgical uterine leiomyomas

Fertil Steril. 2001 Mar;75(3):567-70. doi: 10.1016/s0015-0282(00)01760-x.


Objective: To explore a possible association between estrogen receptor-alpha (ER-alpha) gene polymorphisms and development of uterine leiomyomas.

Design: Case-control study.

Setting: University teaching hospital.

Patient(s): 119 women with clinically and surgically diagnosed uterine leiomyomas.

Intervention(s): Therapeutic hysterectomy.

Main outcome measure(s): Frequency and distribution of ER-alpha gene polymorphisms.

Result(s): No statistically significant differences between controls and patients in the allele frequency and genotype distribution were found when Pvu II and Xba I restriction polymorphism sites were analyzed separately. When the two ER-alpha gene polymorphisms were analyzed in combination, five major genotypes were recognized in controls or patients; the frequency differed slightly but not significantly between groups.

Conclusion(s): The Pvu II and Xba I polymorphisms in the ER-alpha gene do not produce different risks of developing uterine leiomyomas.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Case-Control Studies
  • Deoxyribonucleases, Type II Site-Specific
  • Estrogen Receptor alpha
  • Female
  • Gene Frequency
  • Genotype*
  • Humans
  • Hysterectomy
  • Italy
  • Leiomyoma / genetics*
  • Leiomyoma / surgery
  • Middle Aged
  • Polymorphism, Restriction Fragment Length*
  • Receptors, Estrogen / genetics*
  • Uterine Neoplasms / genetics*
  • Uterine Neoplasms / surgery


  • Estrogen Receptor alpha
  • Receptors, Estrogen
  • endodeoxyribonuclease XBAI
  • CAGCTG-specific type II deoxyribonucleases
  • Deoxyribonucleases, Type II Site-Specific