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遗传性慢性静脉性腿部溃疡的风险因素:分子筛查能否有助于预防慢性静脉功能不全的并发症?

Genetic risk factors of chronic venous leg ulceration: Can molecular screening aid in the prevention of chronic venous insufficiency complications?

机构信息

Cell Molecular Biology Laboratory, Department of Histology and Embryology, Warsaw Medical University, PL 02-004 Warsaw, Poland.

出版信息

Mol Med Rep. 2010 Mar-Apr;3(2):205-11. doi: 10.3892/mmr_00000241.

DOI:10.3892/mmr_00000241
PMID:21472223
Abstract

Venous leg ulceration is a severe complication of chronic venous insufficiency. Despite numerous studies, understanding of the possible mechanisms involved in venous ulceration development remains incomplete. It is assumed that, in addition to well-documented behavioral and/or environmental conditions, as yet poorly defined genetic risk factors may play important roles in chronic wound progression or healing. It is difficult to overestimate the clinical usefulness of genetic screening in the determination of the risk of wound development and/or its healing course. From a pharmacogenomic perspective, genetic screening may aid in the planning of individualized treatment. In addition, the detection of venous ulcer-promoting gene variants may facilitate the decision to introduce prophylaxis or, if necessary, appropriate treatment for venous insufficiency, long before a leg ulcer develops. In addition to significant economic benefits, this approach would reduce the risk of health- and life-threatening conditions. In this review, we focus on several gene mutations/polymorphisms with previously documented significance in leg ulceration pathophysiology, and briefly speculate about possible candidates for further study.

摘要

静脉性腿部溃疡是慢性静脉功能不全的严重并发症。尽管进行了大量研究,但对静脉溃疡发展中涉及的可能机制的理解仍不完整。据推测,除了有充分文献记载的行为和/或环境条件外,目前定义尚不清楚的遗传风险因素可能在慢性伤口进展或愈合中发挥重要作用。遗传筛查在确定伤口发展和/或其愈合过程的风险方面的临床实用性很难被高估。从药物基因组学的角度来看,遗传筛查有助于规划个体化治疗。此外,检测促进静脉溃疡的基因变异可能有助于决定在腿部溃疡发生之前,很早就开始预防或(如有必要)对静脉功能不全进行适当治疗。除了带来显著的经济效益外,这种方法还可以降低危及生命的健康状况的风险。在这篇综述中,我们重点介绍了几个先前已被证明在腿部溃疡发病机制中有意义的基因突变/多态性,并简要推测了可能进一步研究的候选基因。

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Genetic risk factors of chronic venous leg ulceration: Can molecular screening aid in the prevention of chronic venous insufficiency complications?遗传性慢性静脉性腿部溃疡的风险因素:分子筛查能否有助于预防慢性静脉功能不全的并发症?
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全基因组关联研究(PheWAS)目录中的生物学发现:聚焦于结缔组织相关疾病(盆底功能障碍、腹疝、静脉曲张和痔疮)。
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