Cardiovascular Risk Stratification: From Phenotype to Genotype?

Cardiovascular risk scores, such as the Framingham score, have been strongly recommended by clinical guidelines on the assessment of cardiovascular risk. However, several studies have shown limitations for their use,^, particularly in patients at intermediate risk, young patients with a definite family history, and women. Among different tools aimed at improving risk stratification by complementary methods, the use of genetic information has been proposed to enhance risk prediction.

Although many genetic polymorphisms have been associated with increased cardiovascular risk, the additional value of their use in the clinical practice has not been defined yet. One of the reason for such limitation lies on the fact that atherosclerosis is a multifactorial disease, and the individual role of each polymorphism is limited. Since many polymorphisms associated with atherosclerotic disease have been identified, some authors have investigated combinations of several polymorphisms aiming to develop genetic scores that serve as stronger predictors of cardiovascular risk. Nevertheless, despite great enthusiasm about the role of genetic information on the development of cardiovascular risk, previous data have suggested that even with the combination of more than 50 polymorphisms, the best risk stratification achieved was still poor, and of low clinical value in its current form.

[…]