The underlying pathology of cardiovascular diseases is artheriosclerosis, an inflammatory disease which is characterized by the build up of lipids, inflammatory cells and fibrous tissue in the arteries. Its etiology is multifactorial and complex, involving both environmental and genetic factors.
Huge advances in modern genotyping platforms have made it possible to undertake a wide search for the molecular markers associated with complex diseases. The Genome-wide Association Studies enable the identification of polymorphisms associated with cardiovascular disease, which is of enormous help in determining cardiovascular risk. Among these, a series of eleven polymorphisms have been identified and are considered risk factors that are independent of the classical current information analized. Additionally, over a hundred genetic variants are associated with the development of conditions considered to be cardiovascular risk factors. These are the so-called physiopathological signalling pathways, such as dyslipidemia, high blood pressure, obesity, diabetes mellitus, thrombosis and level of dependence on nicotine.
The identification of the genetic profile associated with AMI provides information that is additional to and independent of currently used risk functions, allowing a more precise and specific estimate of theoretical long-term cardiovascular risk. In addition, the genetic profile associated with physiopathological signalling pathways enables the identification of which signal pathway is potentially affected in order to establish more suitable preventative measures.