Ciebiera Michał, Wrzosek Małgorzata, Wojtyła Cezary, Łoziński Tomasz, Nowicka Grażyna, Jakiel Grzegorz, Głowala Marek, Włodarczyk Marta
2 Department of Obstetrics and Gynaecology, Centre of Postgraduate Medical Education, Warsaw, Poland.
Department of Biochemistry and Pharmacogenomics, Faculty of Pharmacy with Division of Laboratory Medicine, Medical University of Warsaw, Warsaw, Poland.
Prz Menopauzalny. 2018 Dec;17(4):149-154. doi: 10.5114/pm.2018.81735. Epub 2018 Dec 31.
Uterine fibroids (UFs) are benign, monoclonal tumours of the female genital tract that originate from the myometrium. They may be diagnosed in as many as 80% of women depending on the selected population. UFs depend mostly on steroid hormones. Elevated levels of oestrogens and progesterone are believed to be among the most important factors inducing their formation and growth. These facts suggest that oestrogen (ESR) and progesterone receptors are crucial in UF pathophysiology as well. Previous studies have shown that, in some populations, polymorphisms in ESR genes (e.g. PvuII) constitute an important risk factor for UFs.
The aim of our study was to investigate whether ESRα PvuII polymorphism is associated with an increased risk of UFs in Caucasian women of Polish origin. A total of 197 patients (114 UF-positive and 83 controls) were included in this retrospective cohort study. ESRα gene polymorphism PvuII (rs2234693) was assayed with PCR and restriction fragment length polymorphism (RFLP).
Our study found no significant difference in the occurrence of ESR PvuII polymorphism between women with UFs and UF-free controls in the selected population.
Our results did not indicate a significant association between ESRα gene PvuII polymorphism and the risk of UFs in Caucasian women of Polish origin. More studies and comparisons between races are necessary to clarify the role of ESRα in the development and progression of UFs.
子宫肌瘤（UFs）是起源于子宫肌层的女性生殖道良性单克隆肿瘤。根据所选人群的不同，多达80%的女性可能被诊断出患有子宫肌瘤。子宫肌瘤主要依赖类固醇激素。雌激素和孕激素水平升高被认为是诱导其形成和生长的最重要因素之一。这些事实表明，雌激素（ESR）和孕激素受体在子宫肌瘤的病理生理学中也至关重要。先前的研究表明，在某些人群中，ESR基因的多态性（如PvuII）是子宫肌瘤的一个重要危险因素。
我们研究的目的是调查ESRα PvuII多态性是否与波兰裔白种女性患子宫肌瘤的风险增加有关。这项回顾性队列研究共纳入了197名患者（114名子宫肌瘤阳性患者和83名对照）。采用聚合酶链反应（PCR）和限制性片段长度多态性（RFLP）分析ESRα基因多态性PvuII（rs2234693）。
我们的研究发现，在所选人群中，患有子宫肌瘤的女性与未患子宫肌瘤的对照之间，ESR PvuII多态性的发生率没有显著差异。
我们的结果并未表明ESRα基因PvuII多态性与波兰裔白种女性患子宫肌瘤的风险之间存在显著关联。需要更多的研究以及不同种族之间的比较，以阐明ESRα在子宫肌瘤发生发展中的作用。
