Genetic copy number variants in myocardial infarction patients with hyperlipidemia

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.

Biofilter as a Functional Annotation Pipeline for Common and Rare Copy Number Burden

“…In addition, hyperlipidemia is associated with many other diseases such as myocardial infarction. For example, one study found several CNVs to have a link to myocardial infarction and hyperlipidemia [20]. Most of these studies were focused on specific CNVs or genes within CNV regions.…”

Genome-wide association studies identified novel loci for non-high-density lipoprotein cholesterol and its postprandial lipemic response

“…Further, CDH13 has been reportedly associated with adiponectin levels in several studies (Ling et al 2009; Jee et al 2010; Chung et al 2011; Aslibekyan et al 2012) including the GOLDN Study (Aslibekyan et al 2012 et al 2010). Besides, CDH13 has also found associated with BMI, coronary artery disease, hypertension, myocardial infarction, dyslipidemia and metabolic syndrome (Fox et al 2007; Wellcome Trust Case Control Consortium 2007; Org et al 2009; Shia et al 2011; Fava et al 2011). Again, this locus for NHDL response to PPL needs to be reconfirmed among independent cohorts though this phenotype was even rarely measured in interventional studies.…”

Genomic structural variations for cardiovascular and metabolic comorbidity

“…CNVs are a significant source of genetic diversity, but their influence on disease susceptibility remains poorly understood. For cardiovascular disease, several studies on CNVs in myocardial infarction and hyperlipidaemia patients have been reported10; however, there has been no CNV research for coronary artery disease and metabolic comorbidity. In the present study, we compared the genomic DNA in the CAP and IMA from patients with coronary artery disease and metabolic comorbidity using array-CGH.…”

“…The studies of CNVs in coronary artery disease have typically used DNA isolated from peripheral blood, and inconclusive results were obtained891011. The most pronounced genomic imbalance in patients with coronary artery disease and metabolic comorbidity are possibly detected in the target disease organs, such as coronary arteries.…”