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[遗传和环境因素在子宫内膜异位症发生发展中的作用]

[Role of genetic and environmental factors in the development of endometriosis].

作者信息

Ballester M, Dehan P, Béliard A, Brichant G, Nisolle M

机构信息

Laboratoire de Biologie des Tumeurs et du Développement, GIGA-cancer, Université de Liège, CHU de Liège, Belgique.

出版信息

Rev Med Liege. 2012 May-Jun;67(5-6):374-80.

Abstract

Endometriosis is usually described as a complex multifactorial disease involving dysregulation of estrogen metabolism, inflammatory and immunological mechanisms. Recently, many authors have questioned the environmental pollution and toxins in the formation and development of endometriotic lesions. Therefore, while dioxins and PCBs have been implicated, insufficient data are available until now to confirm this theory. Endometriosis has also been considered as a genetic disease. Indeed, early familial aggregation and twin studies noted a higher risk of endometriosis among relatives. However, demonstration of a genetic component in the pathogenesis of such a multifactorial disease is quite difficult due to many limitations such as ethnic differences, involvement of environmental factors and size of needed patients cohorts. Over the last decade, the epigenetic approach (DNA methylation, histones modifications and microRNA) has allowed to consider many new perspectives. Indeed, dysregulation (hyper- or hypomethylation) of many genes has already been highlighted. This method of analysis is the subject of numerous studies in order to develop diagnostic, prognostic and therapeutic tools for this disease which is becoming a real public health problem.

摘要

子宫内膜异位症通常被描述为一种复杂的多因素疾病,涉及雌激素代谢、炎症和免疫机制的失调。最近,许多作者对环境污染和毒素在子宫内膜异位症病变形成和发展中的作用提出了质疑。因此,虽然二噁英和多氯联苯被认为与之有关,但到目前为止,尚无足够的数据来证实这一理论。子宫内膜异位症也被视为一种遗传性疾病。事实上,早期的家族聚集性研究和双胞胎研究表明,亲属患子宫内膜异位症的风险更高。然而,由于存在许多限制因素,如种族差异、环境因素的影响以及所需患者队列的规模,要证明这种多因素疾病发病机制中的遗传成分相当困难。在过去十年中,表观遗传学方法(DNA甲基化、组蛋白修饰和微小RNA)带来了许多新的研究视角。确实,许多基因的失调(高甲基化或低甲基化)已经得到证实。这种分析方法是众多研究的主题,目的是开发针对这种已成为实际公共卫生问题的疾病的诊断、预后和治疗工具。

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