Oestrogen receptor-alpha gene polymorphism is associated with endometriosis, adenomyosis and leiomyomata

Endometriosis, adenomyosis and leiomyomata develop in women of reproductive age and regress after menopause or ovariectomy, suggesting that they grow id an oestrogen-dependent fashion. We investigated whether polymorphism in the oestrogen receptor-alpha (ER alpha) gene is related to oestrogen-depend ent benign uterine disease. A total of 203 women with regular menstrual cyc les underwent laparotomy or laparoscopy and were diagnosed histologically w ith endometriosis, adenomyosis and/or leiomyomata, Patients with cervical c arcinoma in situ, tubal occlusion or adhesion but no other gynaecological d isease were considered to be disease-free. A total of 179 women undergoing annual health examination were grouped as reference population. The distrib ution of PvuII genotypes (PP, Pp, and pp) of the ER alpha gene was differen t between each pair of the four groups of endometriosis, adenomyosis/leiomy omata, disease-free, and reference population (P = 0.022-0.0005), except be tween the former two groups. The PP genotype was less frequent in the group s of endometriosis (P = 0.0002) and adenomyosis/leiomyomata (P = 0.002) as compared to that in the disease-free group. In the endometriosis group, the re was no difference in the distribution of PvuII genotypes due to complica ting diseases (adenomyosis and/or leiomyomata) or severity of the clinical stages. These results suggest that the PvuII polymorphism of the ER alpha g ene is associated with the risk for endometriosis, adenomyosis, and leiomyo mata.