Korean J Obstet Gynecol.  2004 Jun;47(6):1204-1209.

Estrogen Receptor Dinucleotide Polymorphism in Patients with Endometriosis

Affiliations
  • 1Department of Obstetrics and Gynecology, Seoul National University College of Medicine, Seoul, Korea.
  • 2Institute of Reproductive Medicine and Population, Medical Research Center, Seoul National University College of Medicine, Seoul, Korea.
  • 3Department of Pathology, Seoul National University College of Medicine, Seoul, Korea.
  • 4Department of Obstetrics and Gynecology, Chonnam National University College of Medicine, Boramae Hospital, Korea.

Abstract


OBJECTIVE
To explore the association of the estrogen receptor dinucleotide repeat polymorphism with the risk of endometriosis. DESIGN: Case-control study.
METHODS
One hundred fifty-one women with surgically or histologically diagnosed endometriosis of stages I-IV (ASRM, 1997) were recruited, and 137 patients with no evidence of endometriosis by laparoscopy or laparotomy served as control. Dinucleotide repeat polymorphism of the estrogen receptor gene was assessed by fluorescent PCR with gene scan analysis. Allele frequencies of dinucleotide repeat polymorphism of the estrogen receptor gene were evaluated.
RESULTS
Fifteen alleles of the estrogen receptor dinucleotide repeat polymorphism were found in subjects: from 12 repeats to 27 repeats except 26 repeats. There was no statistically significant difference in the allele distribution of dinucleotide repeat polymorphism between patients with endometriosis and controls. However, patients with stage I or II endometriosis (n=51) showed a higher incidence of alleles with fewer (TA)n repeats (12-15 repeats) compared with controls (67.6% vs 52.9%, p=0.010, odds ratio=1.860).
CONCLUSION
These results suggest that dinucleotide repeat polymorphism of the estrogen receptor gene is associated with the risk of minimal or mild endometriosis in the Korean population.

Keyword

Endometriosis; Estrogen receptor gene; Polymorphism; Dinucleotide repeat
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