Murray Melissa E, Meschia James F, Dickson Dennis W, Ross Owen A
Department of Neuroscience, Jacksonville, Florida, USA.
Department of Neurology, Mayo Clinic College of Medicine, Jacksonville, Florida, USA.
Minerva Psichiatr. 2010 Mar;51(1):9-25.
Genetic studies are transforming the way we diagnose, evaluate and treat patients. The era of genome-wide association studies promised to discover common risk variants in heterogeneous disorders where previous small-scale association studies had on the whole failed. However, as we enter the post-association era a degree of disappoint is felt regarding the lack of risk factors with large effect for a number of disorders including vascular disease. Vascular disorders are sporadic by nature, though a familial component has been observed. This review will focus on vascular dementia, the genetic risk factors for vascular disorders and highlight how new technologies may overcome the limitations of genome-wide association and nominate those genes that influence disease risk.
基因研究正在改变我们诊断、评估和治疗患者的方式。全基因组关联研究时代有望在先前小规模关联研究总体失败的异质性疾病中发现常见风险变异。然而,当我们进入关联研究后的时代,对于包括血管疾病在内的许多疾病缺乏具有显著效应的风险因素,人们感到一定程度的失望。血管疾病本质上是散发性的,尽管已经观察到有家族性因素。本综述将聚焦于血管性痴呆、血管疾病的遗传风险因素,并强调新技术如何克服全基因组关联研究的局限性,以及确定那些影响疾病风险的基因。