Hazarika Surovi, Annex Brian H
Division of Cardiovascular Medicine and Robert Bernie Cardiovascular Research Center, University of Virginia, Charlottesville, VA.
Clin Chem. 2017 Jan;63(1):236-244. doi: 10.1373/clinchem.2016.263798. Epub 2016 Nov 21.
Peripheral artery disease (PAD) is highly prevalent and there is considerable diversity in the initial clinical manifestation and disease progression among individuals. Currently, there is no ideal biomarker to screen for PAD, to risk stratify patients with PAD, or to monitor therapeutic response to revascularization procedures. Advances in human genetics have markedly enhanced the ability to develop novel diagnostic and therapeutic approaches across a host of human diseases, but such developments in the field of PAD are lagging.
In this article, we will discuss the epidemiology, traditional risk factors for, and clinical presentations of PAD. We will discuss the possible role of genetic factors and gene-environment interactions in the development and/or progression of PAD. We will further explore future avenues through which genetic advances can be used to better our understanding of the pathophysiology of PAD and potentially find newer therapeutic targets. We will discuss the potential role of biomarkers in identifying patients at risk for PAD and for risk stratifying patients with PAD, and novel approaches to identification of reliable biomarkers in PAD.
The exponential growth of genetic tools and newer technologies provides opportunities to investigate and identify newer pathways in the development and progression of PAD, and thereby in the identification of newer biomarkers and therapies.
外周动脉疾病(PAD)非常普遍,个体的初始临床表现和疾病进展存在很大差异。目前,尚无理想的生物标志物用于筛查PAD、对PAD患者进行风险分层或监测血管重建手术的治疗反应。人类遗传学的进展显著提高了针对多种人类疾病开发新型诊断和治疗方法的能力,但PAD领域的此类进展滞后。
在本文中,我们将讨论PAD的流行病学、传统危险因素和临床表现。我们将讨论遗传因素和基因-环境相互作用在PAD发生和/或进展中的可能作用。我们将进一步探索未来的途径,通过这些途径,遗传学进展可用于加深我们对PAD病理生理学的理解,并有可能找到新的治疗靶点。我们将讨论生物标志物在识别PAD风险患者和对PAD患者进行风险分层方面的潜在作用,以及识别PAD可靠生物标志物的新方法。
遗传工具和新技术的指数级增长为研究和识别PAD发生和进展中的新途径提供了机会,从而有助于识别新的生物标志物和治疗方法。