RESUMO
Discovery of genetic risk variants for CAD and their assembly on a computerized microarray enables a genetic risk score (GRS) to be expressed as a single number. Utilizing this array, genetic risk stratification has been performed in over 1 million cases and controls. The genetic score based on one's DNA can be determined anytime from birth on and is independent of age and conventional risk factors. Utilizing the GRS, one can select those at highest risk and would benefit most from primary prevention. Clinical trials have shown that modifying lifestyle or using statin therapy reduces the risk for CAD by approximately 50%. The use of the GRS for primary prevention will have a transformative effect on preventing the spread of CAD.
Assuntos
Doença da Artéria Coronariana/genética , Doença da Artéria Coronariana/prevenção & controle , Variação Genética , Medicina de Precisão , Prevenção Primária , Transcriptoma , Tomada de Decisão Clínica , Doença da Artéria Coronariana/diagnóstico , Doença da Artéria Coronariana/epidemiologia , Perfilação da Expressão Gênica , Predisposição Genética para Doença , Humanos , Inibidores de Hidroximetilglutaril-CoA Redutases/uso terapêutico , Fenótipo , Valor Preditivo dos Testes , Prognóstico , Medição de Risco , Fatores de Risco , Comportamento de Redução do RiscoRESUMO
PURPOSE OF REVIEW: To review the literature showing genetic risk variants is a reliable means of stratifying for risk of CAD for primary prevention. RECENT FINDINGS: Over 90 genetic risk variants have been discovered that predispose to CAD. Results of several studies show that these risk variants effectively stratify for risk of CAD in asymptomatic individuals. SUMMARY: The total individual genetic risk can be summarized into a single number referred to as the genetic risk score (GRS). The GRS unlike the Framingham Risk Score is not dependent on age and independent of conventional risk factors. As DNA does not change during one's lifetime the GRS can be calculated at birth or any time thereafter. Furthermore, the GRS has been shown to provide superior discriminatory power in selecting individuals who will benefit most from lifestyle changes or statin therapy. A prospective study showed individuals with high GRS and a favorable lifestyle was associated with significant reduction of cardiac events compared with an unfavorable lifestyle. Furthermore, the study shows inherited risk can be reduced analogous to reduction of risk form acquired and environmental factors. The use of GRS to stratify for risk of CAD in asymptomatic individuals could transform primary prevention worldwide.