Abstract
BackgroundCardiovascular disease is the chief cause of death in Taiwan and many countries, of which myocardial infarction (MI) is the most serious condition. Hyperlipidemia appears to be a significant cause of myocardial infarction, because it causes atherosclerosis directly. In recent years, copy number variation (CNV) has been analyzed in genomewide association studies of complex diseases. In this study, CNV was analyzed in blood samples and SNP arrays from 31 myocardial infarction patients with hyperlipidemia.ResultsWe identified seven CNV regions that were associated significantly with hyperlipidemia and myocardial infarction in our patients through multistage analysis (P<0.001), at 1p21.3, 1q31.2 (CDC73), 1q42.2 (DISC1), 3p21.31 (CDCP1), 10q11.21 (RET) 12p12.3 (PIK3C2G) and 16q23.3 (CDH13), respectively. In particular, the CNV region at 10q11.21 was examined by quantitative real-time PCR, the results of which were consistent with microarray findings.ConclusionsOur preliminary results constitute an alternative method of evaluating the relationship between CNV regions and cardiovascular disease. These susceptibility CNV regions may be used as biomarkers for early-stage diagnosis of hyperlipidemia and myocardial infarction, rendering them valuable for further research and discussion.
Highlights
Cardiovascular disease is the chief cause of death in Taiwan and many countries, of which myocardial infarction (MI) is the most serious condition
These susceptibility copy number variation (CNV) regions may be used as biomarkers for early-stage diagnosis of hyperlipidemia and myocardial infarction, rendering them valuable for further research and discussion
The copy number (CN) of each patients and average CN of this region were presented in figure 1a, and singlenucleotide polymorphism (SNP) array profile of this CNV region is presented in figure 1b
Summary
Cardiovascular disease is the chief cause of death in Taiwan and many countries, of which myocardial infarction (MI) is the most serious condition. Cardiovascular disease is the principal cause of death in Taiwan and many countries, of which myocardial infarction (MI) is the most serious condition. Hyperlipidemia is a significant cause of MI, because it is characterized by high serum TC, LDL, and TGs and because its complex mechanisms affect progressive atherosclerosis [2]. Many GWASs of cardiovascular disease have identified several loci; for example, the WTCCC study reported nine loci that were robustly associated with coronary artery disease, including 9p3l and 9p34 [5]. These loci were discovered in South Korean [6] and Italian populations [7]. These results indicate that gene variation mediates FCHL and hyperlipidemia
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