Krysa J, Jones G T, van Rij A M
Department of Surgery, Dunedin School of Medicine, University of Otago, New Zealand.
Phlebology. 2012 Oct;27(7):329-35. doi: 10.1258/phleb.2011.011030. Epub 2012 Feb 3.
There is a strong body of circumstantial evidence which implicates genetics in the aetiology and pathology of varicose veins and venous ulcer disease. The aim of this review is to consider the current knowledge of the genetic associations and the ways in which new genetic technologies may be applied to advancing our understanding of the cause and progression of these venous diseases. A number of publications have used a candidate gene approach to identify genes implicated in venous disease. Although these studies have opened up important new insights, there has been a general failure to replicate results in an independent cohort of patients. With our limited knowledge of the biological pathways involved in the pathogenesis of venous disease we are not in a strong position to formulate truly erudite a priori candidate gene hypothesis-directed studies. A genome-wide association study should therefore be considered to help further our understanding of the genetic basis of venous disease. Due to the large sample sizes required for discovery and validation, using the new generations of molecular technologies, it will be necessary to form collaborating groups in order to successfully advance the field of venous disease genetics.
有大量间接证据表明，遗传学与静脉曲张和静脉溃疡疾病的病因及病理相关。本综述的目的是考量目前关于基因关联的知识，以及新基因技术可用于增进我们对这些静脉疾病病因和进展理解的方式。一些出版物采用候选基因方法来识别与静脉疾病相关的基因。尽管这些研究开启了重要的新见解，但在独立的患者队列中普遍未能重复出结果。鉴于我们对静脉疾病发病机制所涉及的生物学途径了解有限，我们难以开展真正有深度的先验候选基因假说导向研究。因此，应考虑进行全基因组关联研究，以帮助进一步理解静脉疾病的遗传基础。由于发现和验证需要大样本量，利用新一代分子技术，有必要组建合作团队，以便成功推动静脉疾病遗传学领域的发展。
