Disproportionate Contributions of Select Genomic Compartments and Cell Types to Genetic Risk for Coronary Artery Disease

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Coronary artery disease (CAD) and its subcomponent, myocardial infarction (MI), are the leading causes of infirmity and death worldwide. Large-scale genetic association studies have identified many genetic markers associated with CAD and MI. However, it has been difficult to determine the precise functional effects of these markers. Furthermore, it is unknown which cell types are biologically important in the development of MI/CAD. By intersecting findings from large-scale genetic association studies with functional genomic annotations, we show that genetic markers located in genomic regions that regulate expression of genes make up a large proportion of the genetic risk of MI/CAD. Furthermore, we show that this effect is particularly strong in certain tissues, including adipose, brain and spleen tissue. These results highlight the role of tissue-specific regulatory mechanisms in the genetic etiology of MI/CAD.

Vyšlo v časopise: Disproportionate Contributions of Select Genomic Compartments and Cell Types to Genetic Risk for Coronary Artery Disease. PLoS Genet 11(10): e32767. doi:10.1371/journal.pgen.1005622
Kategorie: Research Article
prolekare.web.journal.doi_sk: https://doi.org/10.1371/journal.pgen.1005622

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