Oestrogen receptor-alpha gene polymorphism is associated with endometriosis, adenomyosis and leiomyomata
Oestrogen receptor-alpha gene polymorphism is associated with endometriosis, adenomyosis and leiomyomata
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DOI：
10.1093/humrep/16.1.51
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发表时间：
2001-01-01
影响因子：
6.1
通讯作者：
Honjo, H
中科院分区：
文献类型：
--
作者：
Kitawaki, J;Obayashi, H;Honjo, H
子宫内膜异位症、子宫腺肌症和子宫肌瘤在育龄妇女中发生，绝经或卵巢切除后病情消退，表明它们的生长方式依赖于雌激素。我们调查了雌激素受体-α(ERα)基因的多态性是否与雌激素依赖型良性子宫疾病有关。203例有规律月经周期的妇女接受了开腹或腹腔镜手术，组织学诊断为子宫内膜异位症、子宫腺肌病和/或子宫肌瘤，宫颈原位癌、输卵管闭塞或粘连，但没有其他妇科疾病被认为是无病的。将179名每年接受健康检查的妇女作为参考人群。ERα基因PvuII型(Pp、Pp、Pp)在子宫内膜异位症、子宫腺肌病/子宫肌瘤、无病组和正常对照人群中的分布差异有统计学意义(P=0.022~0.0005)，前两组间差异无统计学意义。在子宫内膜异位症组(P=0.0002)和子宫腺肌病/子宫肌瘤组(P=0.002)中，PP基因频率明显低于无病组。在子宫内膜异位症组中，PvuII基因的分布因合并疾病(子宫腺肌病和/或子宫肌瘤)或临床分期的严重程度而无差异。这些结果表明，ERα基因的PvuII多态与子宫内膜异位症、子宫腺肌症和子宫肌瘤的风险相关。
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-dependent benign uterine disease. A total of 203 women with regular menstrual cycles underwent laparotomy or laparoscopy and were diagnosed histologically with endometriosis, adenomyosis and/or leiomyomata, Patients with cervical carcinoma in situ, tubal occlusion or adhesion but no other gynaecological disease were considered to be disease-free. A total of 179 women undergoing annual health examination were grouped as reference population. The distribution of PvuII genotypes (PP, Pp, and pp) of the ER alpha gene was different between each pair of the four groups of endometriosis, adenomyosis/leiomyomata, disease-free, and reference population (P = 0.022-0.0005), except between the former two groups. The PP genotype was less frequent in the groups of endometriosis (P = 0.0002) and adenomyosis/leiomyomata (P = 0.002) as compared to that in the disease-free group. In the endometriosis group, there was no difference in the distribution of PvuII genotypes due to complicating diseases (adenomyosis and/or leiomyomata) or severity of the clinical stages. These results suggest that the PvuII polymorphism of the ER alpha gene is associated with the risk for endometriosis, adenomyosis, and leiomyomata.