J. Kitawaki et al., Oestrogen receptor-alpha gene polymorphism is associated with endometriosis, adenomyosis and leiomyomata, HUM REPR, 16(1), 2001, pp. 51-55
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.