Functional genomics of cardiovascular disease risk
Kim, Jin Hee
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Understanding variability of heath status is highly likely to be an important component of personalized medicine to predict health status of individuals and to promote personal health. Evidences of Genome Wide Association Study and gene expression study indicating that genetic factors affect the risk susceptibility of individuals have suggested adding genetic factors as a component of health status measurements. In order to validate or to predict health risk status with collected personal data such as clinical measurements or genomic data, it is important to have a well-established profile of diseases. The primary effort of this work was to find genomic evidence relevant to coronary artery disease. Two major methods of genomic analysis, gene expression profiling and GWAS on gene expression, were performed to dissect transcriptional and genotypic fingerprints of coronary artery disease. Blood-informative transcriptional Axes that can be described by 10 covariating transcripts per each Axis were utilized as a crucial measure of gene expression analysis. This study of the relationship between gene expression variation and various measurements of coronary artery disease delivered compelling results showing strong association between two transcriptional Axes and incident of myocardial infarction. 244 transcripts closely correlated with death by cardiovascular disease related events were also showing clear association with those two transcriptional Axes. These results suggest potential transcripts for use in risk prediction for the advent of myocardial infarction and cardiac death.