Abstract:
Cardiovascular diseases are the major cause of death globally. The biomarker
profile of heart diseases can improve the risk prediction or prognosis. As cardiovascular
diseases involve several pathophysiological processes involved in a disease, a
single marker is not sufficient to identify the disease severity. Microarray and nextgeneration
sequencing techniques are useful in understanding the disease at the transcriptome
level. Differential gene expression along with pathway analysis and gene
ontology was performed to identify key candidate genes involved in these three disease
phenotypes i.e. CAC, CAD, and ICM. The thresholds for differentially expressed
genes were maintained similar for p-value as <0.05 and -0.5>log2FC>0.5 for log2FC.
Pathway analysis revealed three common enriched pathways based on p-value in
both techniques are regulation of actin cytoskeleton, Herpes simplex virus 1 infection,
and neuroactive ligand-receptor interaction. Pathway analysis revealed genes i.e.
CXCL12, CCL5, CXCR4, PAK1/3, MYLPF, F2, MAP2K1/2, CALCR, and GRM2
that are important in these disease phenotypes. CXCL12 and CXCR4 were found
common in all phenotypes and in both techniques. Several proteins like integrin family
proteins and zinc finger family proteins were also found important and need further
evaluation. Pathway analysis revealed some other vital cascades that need to be further
examined in the future i.e. cell adhesion molecules, complement and coagulation
cascades, MAPK signaling, chemokine signaling, and sphingolipid signaling pathway.
A gene set of twelve common differentially expressed genes including VAMP8,
ARHGAP15, RABGAP1L, CXCL12, CXCR4, PRDM1, TXLNGY, MYBL1, SPP1,
PTGS2, HLA-DPB1 and CTSK in RNA-Seq and microarray and among coronary
artery calcification, coronary artery disease and ischemic cardiomyopathy can serve
as as potential biomarkers in future for the prediction of these heart diseases however,
it requires wet lab experimentation.
