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Revista Española de Cardiología (English Edition) Revista Española de Cardiología (English Edition)

Basic Concepts in Molecular Biology Related to Genetics and Epigenetics

Dolores Corella a,b,, Jose M. Ordovas c,d,e

a CIBER Fisiopatología de la Obesidad y Nutrición, Instituto de Salud Carlos III, Madrid, Spain
b Departamento de Medicina Preventiva y Salud Pública, Facultad de Medicina, Universidad de Valencia, Valencia, Spain
c Instituto Madrileño de Estudios Avanzados (IMDEA) Alimentación, Madrid, Spain
d Nutrition and Genomics Laboratory, Jean Mayer USDA Human Nutrition Research Center on Aging, Tufts University, Boston, Massachusetts, United States
e Departamento de Epidemiología Cardiovascular y Genética de Poblaciones, Centro Nacional de Investigaciones Cardiovasculares (CNIC), Madrid, Spain

Refers to

The State of Cardiovascular Genomics: Abundant Data, Limited Information
Stella Aslibekyan, Edward A. Ruiz-Narváez
Rev Esp Cardiol. 2017;70:696-8
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Genetics. Epigenetics. Polymorphism. Methylation.


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.


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1885-5857/© 2017 Sociedad Española de Cardiología. Published by Elsevier España, S.L.U. All rights reserved