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BMC Med Genomics. 2018 Nov 27;11(1):109. doi: 10.1186/s12920-018-0427-x.

Identification of gene expression profiles in myocardial infarction: a systematic review and meta-analysis.

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Department of Computer Science and Biomedical Informatics, University of Thessaly, 35131, Lamia, Greece.
Izmir Biomedicine and Genome Institute, Dokuz Eylül University Health Campus, 35340, Izmir, Turkey.
Department of Hygiene and Epidemiology, University of Ioannina School of Medicine, Stavros Niarchos Av, 45110, Ioannina, Greece.
School of Medicine, New York University, New York, NY 10016, USA.
Department of Computer Science and Biomedical Informatics, University of Thessaly, 35131, Lamia, Greece.
Lamia, University of Thessaly, Papasiopoulou 2-4, 35131, Lamia, Greece.



Myocardial infarction (MI) is a multifactorial disease with complex pathogenesis, mainly the result of the interplay of genetic and environmental risk factors. The regulation of thrombosis, inflammation and cholesterol and lipid metabolism are the main factors that have been proposed thus far to be involved in the pathogenesis of MI. Traditional risk-estimation tools depend largely on conventional risk factors but there is a need for identification of novel biochemical and genetic markers. The aim of the study is to identify differentially expressed genes that are consistently associated with the incidence myocardial infarction (MI), which could be potentially incorporated into the traditional cardiovascular diseases risk factors models.


The biomedical literature and gene expression databases, PubMed and GEO, respectively, were searched following the PRISMA guidelines. The key inclusion criteria were gene expression data derived from case-control studies on MI patients from blood samples. Gene expression datasets regarding the effect of medicinal drugs on MI were excluded. The t-test was applied to gene expression data from case-control studies in MI patients.


A total of 162 articles and 174 gene expression datasets were retrieved. Of those a total of 4 gene expression datasets met the inclusion criteria, which contained data on 31,180 loci in 93 MI patients and 89 healthy individuals. Collectively, 626 differentially expressed genes were detected in MI patients as compared to non-affected individuals at an FDR q-value = 0.01. Of those, 88 genes/gene products were interconnected in an interaction network. Totally, 15 genes were identified as hubs of the network.


Functional enrichment analyses revealed that the DEGs and that they are mainly involved in inflammatory/wound healing, RNA processing/transport mechanisms and a yet not fully characterized pathway implicated in RNA transport and nuclear pore proteins. The overlap between the DEGs identified in this study and the genes identified through genetic-association studies is minimal. These data could be useful in future studies on the molecular mechanisms of MI as well as diagnostic and prognostic markers.


Biomarkers; Differentially expressed genes; Gene-expression; Meta-analysis; Myocardial infarction; Risk prediction

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