| Emerging genomic applications in coronary artery disease. | |
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MedLine Citation:
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PMID: 21596318 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Over the last 4 years, an unprecedented number of studies illuminating the genomic underpinnings of common "polygenic" diseases including coronary artery disease have been published. Notably, these studies have established numerous deoxyribonucleic acid (DNA) variants within or near chromosome 9p21.3, the LPA, CXADR, and APOE genes, to name a few, as key coronary artery disease and sudden cardiac death susceptibility markers. Most importantly, many of these DNA variants confer over a 2-fold increase in risk for coronary artery disease, myocardial infarction, and ventricular fibrillation. Additionally, loss-of-function variants in the hepatic cytochrome 2C19 system have now been found to be the predominant genetic mediators of clopidogrel antiplatelet response, with variant carriers having a >3-fold increase in risk for stent thrombosis. In the near future, many additional rare polymorphisms, structural variants, and tissue-specific epigenetic features of the human genome including DNA methylation, histone modifications, and chromatin state will emerge as significant contributors to disease pathogenesis and drug response. In aggregate, these findings will have the potential to radically change the practice of cardiovascular medicine. However, only the individual clinician can ultimately enable the translation of these important discoveries to systematic implementation in clinical practice. |
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Authors:
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Samir B Damani; Eric J Topol |
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Publication Detail:
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Type: Journal Article; Review |
Journal Detail:
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Title: JACC. Cardiovascular interventions Volume: 4 ISSN: 1876-7605 ISO Abbreviation: JACC Cardiovasc Interv Publication Date: 2011 May |
Date Detail:
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Created Date: 2011-05-20 Completed Date: 2011-09-09 Revised Date: 2012-08-29 |
Medline Journal Info:
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Nlm Unique ID: 101467004 Medline TA: JACC Cardiovasc Interv Country: United States |
Other Details:
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Languages: eng Pagination: 473-82 Citation Subset: IM |
Copyright Information:
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Copyright © 2011 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved. |
Affiliation:
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Division of Cardiovascular Diseases, Scripps Clinic, Scripps Translational Science Institute and the Scripps Research Institute, La Jolla, California 92037, USA. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Animals Apolipoproteins E / genetics Aryl Hydrocarbon Hydroxylases / genetics, metabolism Coronary Artery Disease / genetics* Gene Expression Profiling Genetic Predisposition to Disease Genomics* / methods Humans Individualized Medicine Lipoprotein(a) / genetics Pharmacogenetics Phenotype Platelet Aggregation Inhibitors / pharmacokinetics Polymorphism, Genetic Risk Assessment Risk Factors |
| Chemical | |
Reg. No./Substance:
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0/Apolipoproteins E; 0/Lipoprotein(a); 0/Platelet Aggregation Inhibitors; EC 1.14.14.1/Aryl Hydrocarbon Hydroxylases; EC 1.14.14.1/CYP2C19 protein, human |
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