Estrogen receptor thymine–adenine dinucleotide repeat polymorphism is associated with susceptibility to leiomyoma

Abstract

Objective

To evaluate the association between leiomyomas and estrogen receptor gene polymorphism.

Design

Prospective study.

Setting

Department of gynecology and genetics.

Patient(s)

Women with (n = 159) or without leiomyomas (n = 131).

Main outcome measure(s)

Polymerase chain reaction was used to detect dinucleotide (thymine–adenine [TA]) repeat polymorphisms upstream of the estrogen receptor gene. Genotypes were classified as A through P according to the number of the TA repeats from 12 to 27. Distributions of TA repeat for estrogen receptor in both groups were compared.

Result(s)

Genotypes A to E were detected in 10.7%, 18.9%, 15.7%, 16.4%, and 4.4%, respectively, of women with leiomyomas and 4.2%, 9.5%, 20.6%, 19.1%, and 10.3% of women without leiomyomas. Women with genotypes A and B (12 or 13 TA repeats) have a higher risk for leiomyomas, and those with genotype E (16 TA repeats) have a lower risk.

Conclusion(s)

Estrogen receptor gene polymorphism probably contributes to the pathogenesis of leiomyoma and may predict the susceptibility to leiomyoma. The 12 and 13 TA repeats are associated with a higher risk of leiomyoma.