Development and Validation of a Macroarray System - MutaCHIP® ARTERO - for the Detection of Genetic Variants Involved in the Pathogenesis of Atherosclerosis

Abstract

Cardiovascular diseases are the leading cause of death in developed countries. The underlying mechanism is often atherosclerotic remodeling of blood vessels in organs such as heart, kidney, brain, and large arteries in case of peripheral arterial disease. Beside environmental and behavioral factors such as smoking or lack of physical activity, genetic variants in genes involved in lipid metabolism, blood pressure regulation, oxidative stress, and coagulation play a prominent role in the pathogenesis of atherosclerosis. Thus, we developed and validated for clinical use and research a macroarray system for the simultaneous detection of key genetic variants in genes involved in lipid metabolism, blood pressure regulation, oxidative stress, and coagulation. When compared with standard PCR technologies to determine all these genetic variants in parallel, the macroarray system (MutaCHIP ARTERO) was as accurate but faster, cheaper, and easier to handle compared to classical real time PCR based technologies. MutaCHIP ARTERO is a gene chip for diagnostics of a complex genetic panel involved in the pathogenesis of atherosclerosis. This method is as sensitive and precise as real time PCR and is able to replicate real time PCR data previously validated in evaluation studies.