Estrogen Receptor Dinucleotide Polymorphism in Patients with Endometriosis / 대한산부인과학회잡지

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.