Relationship between ERα gene polymorphisms and endometriosis

AIM: To evaluate the effect of ERα gene polymorphisms in the pathogenesis of endometriosis. METHODS: The distribution of ERα gene PvuⅡ and XbaⅠ polymorphisms in 60 specimens of endometriosis and 56 specimens of normal endometrium was determined by RFLP-PCR and DNA sequencing. RESULTS: The distribution of PvuⅡ genotypes ( PP,Pp and pp) and XbaⅠ genotypes ( XX,Xx and xx) of the ERα gene was not significantly different between endometriosis and normal endometrium. The six genotype combinations were analyzed,and the distribution of these genotype combinations did not reveal the statistical difference between the cases and controls. The distribution of PvuⅡ genotypes and XbaⅠ genotypes of the ERα gene was not significantly different between the patients with stage I/II endometriosis and those with stage III/IV endometriosis. CONCLUSION: The finding suggests that there is no significant correlation between ERα gene polymorphisms and the pathogenesis of endometriosis.