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(Circulation. 2007;116:1714-1724.)
© 2007 American Heart Association, Inc.

Contemporary Reviews in Cardiovascular Medicine

Genetics of Cardiovascular Diseases

From Single Mutations to the Whole Genome

François Cambien, MD; Laurence Tiret, PhD

From INSERM UMR S 525 and Université Pierre et Marie Curie, Paris, France.

Correspondence to Dr François Cambien, INSERM U525, Faculté de Médecine Pitié-Salpêtrière, 91 blvd de l’Hôpital, 75634 Paris cedex 13, France. E-mail cambien@chups.jussieu.fr

Key Words: cardiovascular diseases • epidemiology • genetics • lipoproteins • risk factors

An extract of the first 250 words of the full text is provided, because this article has no abstract.

	Introduction

 
When the search for genes that predispose to cardiovascular diseases (CVD) started >20 years ago, it was anticipated that genetic polymorphisms might be analogous to the already known CVD risk factors and could be incorporated in a risk model such as the Framingham score¹ to assess the risk of an individual and adopt preventive or therapeutic measures accordingly. However, despite years of intensive research, not a single genetic risk factor is used for risk assessment. The new strategy of genome-wide association (GWA) studies (for example, see http://www.wtccc. org.uk/) coupled with the availability of very large cohorts of patients² is starting to reveal novel genetic factors that contribute to disease risk. Whether these variants will be clinically more useful than those that were derived from the study of candidate genes still needs to be demonstrated. As time passes, the interest for genetic research on common CVD moves progressively from the direct expectation of risk stratification to the more fundamental understanding of disease origins and pathophysiology and their indirect diagnostic and therapeutic implications.

The objective of the present review is not to provide an exhaustive account of the numerous studies conducted on the genetics of CVD (eg, Arnett et al³), but to introduce a few basic notions required to understand the language of genetics and genomics (see Appendix) and illustrate with a limited number of examples the important insights provided by genetic research into the causes and mechanisms of CVD. We will also discuss the new GWA strategy and why this . . . [Full Text of this Article]

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