Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Università degli Studi di Milano, Department of Medicine and Medical Specialities, IRCCS Maggiore Hospital, Mangiagalli and Regina Elena Foundation, Luigi Villa Foundation, via Pace 9, 20122, Milan, Italy.
Eur J Intern Med. 2010 Apr;21(2):74-8. doi: 10.1016/j.ejim.2009.11.003. Epub 2009 Dec 16.
Atherothrombotic diseases are complex diseases, arising from the interaction between several genetic and environmental factors. Until recently, the genetic basis of complex diseases in general, and of atherothrombosis in particular, were poorly characterized. Progress in DNA analysis techniques and the increasing level of characterization of the variability of the human genome has recently allowed to study comprehensively the association between genetic variants and diseases. To date, more than 400 genome-wide association studies have been conducted, allowing to identify more than 430 genomic regions at which common genetic variants influence the predisposition to complex diseases of great epidemiological relevance. This review article summarizes the progress achieved in the genetic basis of atherothrombotic diseases such as myocardial infarction and ischemic stroke. The advances achieved so far now await for clinical applications.
动脉粥样血栓疾病是一种复杂的疾病，源于多种遗传和环境因素的相互作用。直到最近，复杂疾病的遗传基础，尤其是动脉粥样血栓形成的遗传基础，还没有得到很好的描述。DNA 分析技术的进步以及人类基因组变异性的日益特征化，最近使得全面研究遗传变异与疾病之间的关联成为可能。迄今为止，已经进行了 400 多项全基因组关联研究，确定了 430 多个常见遗传变异影响具有重大流行病学相关性的复杂疾病易感性的基因组区域。这篇综述文章总结了在心肌梗死和缺血性中风等动脉粥样血栓疾病的遗传基础方面取得的进展。迄今为止取得的进展现在正等待临床应用。
