O'Donnell Christopher J, Nabel Elizabeth G
Center for Population Studies in the Division of Intramural Research, Framingham Heart Study, Bethesda, MD, USA.
Circ Cardiovasc Genet. 2008 Oct;1(1):51-7. doi: 10.1161/CIRCGENETICS.108.813337.
The inaugural issue of Circulation: Cardiovascular Genetics arrives at a remarkable time in the history of genetic research and cardiovascular medicine. Despite tremendous progress in knowledge gained, cardiovascular disease(CVD) remains the leading cause of death in the United States,1 and it has overcome infectious diseases as the leading cause of death worldwide.2 In addition, rates of CVD remain higher in black and Hispanic populations in the United States.1 The recent Strategic Plan of the National Heart, Lung,and Blood Institute (NHLBI) emphasizes research areas to fill the significant knowledge gaps needed to improve the diagnosis,treatment, and control of known risk factors and clinically apparent disease. Simultaneously, the NHLBI Strategic Plan recognizes a tremendous opportunity that is available for use of genetic and genomic research to generate new knowledge that might reduce the morbidity and mortality from CVD in US populations.3 Public availability of vast amounts of detailed sequence information about the human genome, completed sequence data on dozens of other animal genomes, and private sector development of high-throughput genetic technologies has transformed in a few short years the conduct of cardiovascular genetics and genomics research from a primary focus on mendelian disorders to a current emphasis on genome-wide association studies (GWAS; Figure1). In this review, we describe the rationale for the current emphasis on large-scale genomic studies, summarize the evolving approaches and progress to date, and identify immediate-term research needs. The National Institutes of Health (NIH) and the NHLBI are supporting a portfolio of large-scale genetic and genomic programs in diverse US populations with the longer-term objective of translating knowledge into the prediction, prevention, and preemption of CVD, as well as lung, sleep, and blood disorders. Underlying this portfolio is a strong commitment to make available participant-level data and aggregate research results to the broad community of investigators, while protecting the privacy and confidentiality and respecting the informed consent of study participants.
《循环：心血管遗传学》创刊号在遗传研究和心血管医学史上的一个非凡时刻问世。尽管在已获知识方面取得了巨大进展，但心血管疾病（CVD）在美国仍是主要死因，并且在全球范围内已超过传染病成为主要死因。此外，美国黑人和西班牙裔人群中的心血管疾病发病率仍然较高。美国国立心脏、肺和血液研究所（NHLBI）最近的战略计划强调了研究领域，以填补改善已知风险因素以及临床显性疾病的诊断、治疗和控制所需的重大知识空白。同时，NHLBI战略计划认识到利用遗传和基因组研究产生新知识的巨大机会，这些新知识可能会降低美国人群中心血管疾病的发病率和死亡率。人类基因组大量详细序列信息的公开可用、数十种其他动物基因组的完整序列数据以及私营部门高通量遗传技术的发展，在短短几年内就将心血管遗传学和基因组学研究的开展从主要关注孟德尔疾病转变为目前对全基因组关联研究（GWAS；图1）的重视。在这篇综述中，我们描述了当前强调大规模基因组研究的基本原理，总结了不断演变的方法和迄今为止的进展，并确定了近期的研究需求。美国国立卫生研究院（NIH）和NHLBI正在美国不同人群中支持一系列大规模遗传和基因组计划，其长期目标是将知识转化为对心血管疾病以及肺部、睡眠和血液疾病的预测、预防和抢先干预。这一系列计划的基础是坚定承诺向广大研究人员群体提供参与者层面的数据和汇总研究结果，同时保护隐私和机密性，并尊重研究参与者的知情同意。
