Marian Ali J, van Rooij Eva, Roberts Robert
Center for Cardiovascular Genetics, Brown Foundation Institute of Molecular Medicine, The University of Texas Health Science Center, and Texas Heart Institute, Houston, Texas.
Hubrecht Institute, KNAW and University Medical Center Utrecht, Utrecht, the Netherlands; Department of Cardiology, University Medical Center Utrecht, Utrecht, the Netherlands.
J Am Coll Cardiol. 2016 Dec 27;68(25):2831-2849. doi: 10.1016/j.jacc.2016.09.968.
This is the first of 2 review papers on genetics and genomics appearing as part of the series on "omics." Genomics pertains to all components of an organism's genes, whereas genetics involves analysis of a specific gene or genes in the context of heredity. The paper provides introductory comments, describes the basis of human genetic diversity, and addresses the phenotypic consequences of genetic variants. Rare variants with large effect sizes are responsible for single-gene disorders, whereas complex polygenic diseases are typically due to multiple genetic variants, each exerting a modest effect size. To illustrate the clinical implications of genetic variants with large effect sizes, 3 common forms of hereditary cardiomyopathies are discussed as prototypic examples of single-gene disorders, including their genetics, clinical manifestations, pathogenesis, and treatment. The genetic basis of complex traits is discussed in a separate paper.
这是作为“组学”系列文章一部分发表的两篇关于遗传学和基因组学的综述论文中的第一篇。基因组学涉及生物体基因的所有组成部分，而遗传学则是在遗传背景下对特定一个或多个基因进行分析。本文提供了介绍性评论，描述了人类遗传多样性的基础，并探讨了基因变异的表型后果。具有大效应大小的罕见变异导致单基因疾病，而复杂的多基因疾病通常是由于多个基因变异，每个变异的效应大小都较小。为了说明具有大效应大小的基因变异的临床意义，讨论了3种常见的遗传性心肌病作为单基因疾病的典型例子，包括它们的遗传学、临床表现、发病机制和治疗。复杂性状的遗传基础将在另一篇论文中讨论。
