Arnett Donna K, Baird Alison E, Barkley Ruth A, Basson Craig T, Boerwinkle Eric, Ganesh Santhi K, Herrington David M, Hong Yuling, Jaquish Cashell, McDermott Deborah A, O'Donnell Christopher J
University of Alabama School of Public Health, USA.
Circulation. 2007 Jun 5;115(22):2878-901. doi: 10.1161/CIRCULATIONAHA.107.183679. Epub 2007 May 21.
Atherosclerotic cardiovascular disease (CVD) is a major health problem in the United States and around the world. Evidence accumulated over decades convincingly demonstrates that family history in a parent or a sibling is associated with atherosclerotic CVD, manifested as coronary heart disease, stroke, and/or peripheral arterial disease. Although there are several mendelian disorders that contribute to CVD, most common forms of CVD are believed to be multifactorial and to result from many genes, each with a relatively small effect working alone or in combination with modifier genes and/or environmental factors. The identification and the characterization of these genes and their modifiers would enhance prediction of CVD risk and improve prevention, treatment, and quality of care. This scientific statement describes the approaches researchers are using to advance understanding of the genetic basis of CVD and details the current state of knowledge regarding the genetics of myocardial infarction, atherosclerotic CVD, hypercholesterolemia, and hypertension. Current areas of interest and investigation--including gene-environment interaction, pharmacogenetics, and genetic counseling--are also discussed. The statement concludes with a list of specific recommendations intended to help incorporate usable knowledge into current clinical and public health practice, foster and guide future research, and prepare both researchers and practitioners for the changes likely to occur as molecular genetics moves from the laboratory to clinic.
动脉粥样硬化性心血管疾病(CVD)是美国乃至全球的一个主要健康问题。数十年来积累的证据令人信服地表明,父母或兄弟姐妹的家族病史与动脉粥样硬化性CVD相关,表现为冠心病、中风和/或外周动脉疾病。尽管有几种孟德尔疾病会导致CVD,但大多数常见形式的CVD被认为是多因素的,是由许多基因共同作用的结果,每个基因单独或与修饰基因和/或环境因素结合时,其作用相对较小。识别和表征这些基因及其修饰因子将提高对CVD风险的预测,并改善预防、治疗和护理质量。本科学声明描述了研究人员用于增进对CVD遗传基础理解的方法,并详细介绍了目前关于心肌梗死、动脉粥样硬化性CVD、高胆固醇血症和高血压遗传学的知识状况。还讨论了当前感兴趣和正在研究的领域,包括基因-环境相互作用、药物遗传学和遗传咨询。声明最后列出了一系列具体建议,旨在帮助将可用知识纳入当前的临床和公共卫生实践,促进和指导未来的研究,并让研究人员和从业者为分子遗传学从实验室走向临床可能带来的变化做好准备。