Corella Dolores, Ordovas Jose M
Departamento de Medicina Preventiva y Salud Pública, Facultad de Medicina, Universidad de Valencia, Valencia, Spain; CIBER Fisiopatología de la Obesidad y Nutrición, Instituto de Salud Carlos III, Madrid, Spain.
Departamento de Epidemiología Cardiovascular y Genética de Poblaciones, Centro Nacional de Investigaciones Cardiovasculares (CNIC), Madrid, Spain; Instituto Madrileño de Estudios Avanzados (IMDEA) Alimentación, Madrid, Spain; Nutrition and Genomics Laboratory, Jean Mayer USDA Human Nutrition Research Center on Aging, Tufts University, Boston, Massachusetts, United States.
Rev Esp Cardiol (Engl Ed). 2017 Sep;70(9):744-753. doi: 10.1016/j.rec.2017.05.011. Epub 2017 Jun 13.
The observation that "one size does not fit all" for the prevention and treatment of cardiovascular disease, among other diseases, has driven the concept of precision medicine. The goal of precision medicine is to provide the best-targeted interventions tailored to an individual's genome. The human genome is composed of billions of sequence arrangements containing a code that controls how genes are expressed. This code depends on other nonstatic regulators that surround the DNA and constitute the epigenome. Moreover, environmental factors also play an important role in this complex regulation. This review provides a general perspective on the basic concepts of molecular biology related to genetics and epigenetics and a glossary of key terms. Several examples are given of polymorphisms and genetic risk scores related to cardiovascular risk. Likewise, an overview is presented of the main epigenetic regulators, including DNA methylation, methylcytosine-phosphate-guanine-binding proteins, histone modifications, other histone regulations, micro-RNA effects, and additional emerging regulators. One of the greatest challenges is to understand how environmental factors (diet, physical activity, smoking, etc.) could alter the epigenome, resulting in healthy or unhealthy cardiovascular phenotypes. We discuss some gene-environment interactions and provide a methodological overview.
“一刀切并不适用于所有情况”这一观察结果适用于心血管疾病及其他疾病的防治，这推动了精准医学概念的产生。精准医学的目标是提供针对个体基因组的最佳靶向干预措施。人类基因组由数十亿个序列排列组成，其中包含控制基因表达方式的编码。该编码依赖于围绕DNA的其他非静态调节因子，这些调节因子构成了表观基因组。此外，环境因素在这种复杂的调节中也起着重要作用。本综述提供了与遗传学和表观遗传学相关的分子生物学基本概念的总体观点以及关键术语词汇表。给出了一些与心血管风险相关的多态性和遗传风险评分的例子。同样，还概述了主要的表观遗传调节因子，包括DNA甲基化、甲基胞嘧啶 - 磷酸 - 鸟嘌呤结合蛋白、组蛋白修饰、其他组蛋白调节、微小RNA效应以及其他新兴调节因子。最大的挑战之一是了解环境因素（饮食、体育活动、吸烟等）如何改变表观基因组，从而导致健康或不健康的心血管表型。我们讨论了一些基因 - 环境相互作用，并提供了方法学概述。
