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Genomic Medicine

, Volume 2, Issue 1–2, pp 7–22

First Online: 14 August 2008Received: 09 May 2008Revised: 28 July 2008Accepted: 30 July 2008DOI: 10.1007-s11568-008-9025-x

Cite this article as: Yamada, Y., Ichihara, S. & Nishida, T. HUGO J 2008 2: 7. doi:10.1007-s11568-008-9025-x


Myocardial infarction MI is an important clinical problem because of its large contribution to mortality. The main causal and treatable risk factors for MI include hypertension, hypercholesterolemia or dyslipidemia, diabetes mellitus, and smoking. In addition to these risk factors, recent studies have shown the importance of genetic factors and interactions between multiple genes and environmental factors. Disease prevention is an important strategy for reducing the overall burden of MI, with the identification of markers for disease risk being key both for risk prediction and for potential intervention to lower the chance of future events. Although genetic linkage analyses of families and sib-pairs as well as candidate gene and genome-wide association studies have implicated several loci and candidate genes in predisposition to coronary heart disease CHD or MI, the genes that contribute to genetic susceptibility to these conditions remain to be identified definitively. In this review, we summarize both candidate loci for CHD or MI identified by linkage analyses and candidate genes examined by association studies. We also review in more detail studies that have revealed the association with MI or CHD of polymorphisms in MTHFR, LPL, and APOE by the candidate gene approach and those in LTA and at chromosomal region 9p21.3 by genome-wide scans. Such studies may provide insight into the function of implicated genes as well as into the role of genetic factors in the development of CHD and MI.

KeywordsMyocardial infarction Coronary heart disease Genetics Polymorphism Linkage analysis Association study AbbreviationsSNPSingle nucleotide polymorphism

MIMyocardial infarction

CHDCoronary heart disease

ACSAcute coronary syndrome

CRPC-reactive protein

GWASGenome-wide association study

HDLHigh density lipoprotein

LDLLow density lipoprotein

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Author: Yoshiji Yamada - Sahoko Ichihara - Tamotsu Nishida


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