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.