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1 Mechanisms of Disease : Novel Polymorphisms in Coronary Artery Disease

Coronary artery disease (CAD) is one of the most common cardiovascular diseases and has a high incidence of morbidity and mortality. CAD is a major public health problem in developing and developed countries and its increasing prevalence is a cause of considerable concern in the medical community worldwide (He et al., 2005). CAD involves genetic and environmental factors and their interaction with each other. Traditional risk factors account for at most one-half of the prevalence of CAD (Zdravkovic et al., 2002). Despite attempts to establish the molecular and genetic determinants that could account for variations in CAD (Zdravkovic et al., 2002), the etiology and complex multigenic basis of atherosclerosis is still not completely understood. Completion of the sequencing of the human genome was a monumental achievement (Venter et al., 2001). Molecular researchers now take for granted the information provided by the sequence, however the clinical applications are not immediately obvious. A limitation of the Human Genome Project was that it produced only a single “reference” sequence. But in order to identify new disease causing mechanisms and cures for disease, we need to go beyond the “reference” and characterize the differences between our genomes, and in turn the effect that these differences have. The Human HapMap consortium (Frazer et al., 2007) and recent genome-wide association studies (GWAS) have set out to capture the interindividual differences that are associated with disease processes, including coronary artery disease. The association between genetic variations and CAD have been reviewed in several previous manuscripts (Lanktree et al., 2008), but in our knowledge so far there has been no study in the field of association between novel gene variations and CAD; therefore we focused on introducing some novel polymorphisms and their relationships with CAD.