Department of Laboratory Medicine, University of California, San Francisco, CA, USA.
Hypertension. 2010 Dec;56(6):1021-5. doi: 10.1161/HYPERTENSIONAHA.110.156190.
Over the past few years, it has been asserted that genome-wide association studies would open the door to identifying primary genetic mechanisms underlying a variety of common clinical disorders, including essential hypertension. Great hope was expressed that such research would ultimately lead to improved clinical outcomes by facilitating the discovery of novel targets for therapy and by spawning a new era of personalized medicine in which the results of genetic tests would be useful for guiding customized risk assessment and individual patient management. In this Controversies in Hypertension series, I contend that genome-wide association studies have failed, and will continue to fail, to unlock the genetic basis of essential hypertension and the research dollars being devoted to genome-wide association studies should be shifted to other strategies and technologies that may hold greater chance for advancing our understanding of the genetic factors that influence population variation in blood pressure and risk for hypertension.
在过去的几年中,人们一直断言,全基因组关联研究将为确定包括原发性高血压在内的多种常见临床疾病的主要遗传机制开辟道路。人们曾满怀希望地表示,这种研究最终将通过发现新的治疗靶点和开创个性化医学的新时代来改善临床结果,在个性化医学中,遗传测试的结果将有助于指导定制风险评估和患者个体管理。在本系列的《高血压争议》中,我认为全基因组关联研究已经失败,并将继续失败,无法揭示原发性高血压的遗传基础,而投入到全基因组关联研究中的研究资金应该转向其他策略和技术,这些策略和技术可能更有机会增进我们对影响血压和高血压风险的遗传因素的认识。