Coronary Heart Disease, Susceptibility to, 1

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WHO-ICD-10 version:2010

Diseases of the circulatory system

Ischaemic heart diseases

OMIM Number

607339

Gene Map Locus

13q12.3,16pter-p13

Description

Coronary heart disease (CHD) is a complex multifactorial disorder, characterized by the narrowing of coronary arteries, due to the build-up of atherosclerotic plaques within the inner walls.  The plaque is a fatty waxy substance that can harden over time.  The narrowing of the vessels leads to decreased blood flow to the cardiac muscles, causing angina or chest pain.  In addition, the plaque might occasionally dislodge from the walls, travel through the arteries, resulting in clotting and blockage of the arteries.  CHD is associated with high rate of mortality and morbidity worldwide, and has a huge social and economic burden in society.  Each year, approximately 7 million people worldwide die from CHD. 

Several risk factors have been identified in association with CHD.  These include obesity, smoking, hypertension, diabetes and hypercholesterolemia.  Diagnosis of the condition can be done on the basis of tests, such as MRI or CT scans, and coronary angiography, a procedure allows for visualization of the lumen.  CHD cannot be cured.  However, it can be managed effectively, and progress can be stopped.  Medications such as cholesterol-lowering medications, blood thinners, beta blockers, and/or ACE inhibitors are regularly used for managing the condition.  Surgical options include angioplasty and stent placement to widen the narrowed arteries, or coronary artery bypass surgery, which involves creating a graft to bypass the blocked coronary arteries.  Treatment needs to be supported with lifestyle modifications, including stopping smoking, transitioning to a healthy diet, and regular exercise.  

Molecular Genetics

The preponderance of CHD within families has supported the presence of a major genetic component to the condition.  Most studies on the genetics of CHD seem to suggest that the heritability of this condition is based largely on the cumulative effect of multiple common alleles of small effect size, rather than rare variants with large effects.  In total, around 60 common SNPs have been identified to be associated with risk of developing CAD.  The disease contribution of some of these variants can be explained through their functions in lipid metabolism and some through their role in managing hypertension, while for most of the variants the mechanism of action is unknown.  

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
124040.G.2Lebanon Abnormal circulating lipid concentration...CYP2E1*6 Allele NM_000773.4:c.967+1143T>A, CYP2E1*5B Allele NM_000773.3:c.[-1295G>C;-1055C>T]Zgheib et al. 2010 Among 231 patients w...
607339.G.1.1LebanonYes Premature coronary artery atherosclerosi...NG_011963.2:g.21351G>AHeterozygousAutosomal, DominantAlwan et al. 2010 From a study of 289 ...
607339.G.1.2LebanonYes Premature coronary artery atherosclerosi...NG_011963.2:g.21351G>AHomozygousAutosomal, DominantAlwan et al. 2010 From a study of 289 ...
607339.G.1.5LebanonYes Premature coronary artery atherosclerosi...NG_011963.2:g.29482A>THeterozygousAutosomal, DominantAlwan et al. 2010 From a study of 289 ...
607339.G.1.6LebanonYes Premature coronary artery atherosclerosi...NG_011963.2:g.29482A>THomozygousAutosomal, DominantAlwan et al. 2010 From a study of 289 ...
607339.G.1.9LebanonYes Premature coronary artery atherosclerosi...NG_011963.2:g.53431A>GHeterozygousAutosomal, DominantAlwan et al. 2010 From a study of 289 ...
607339.G.1.10LebanonYes Premature coronary artery atherosclerosi...NG_011963.2:g.53431A>GHomozygousAutosomal, DominantAlwan et al. 2010 From a study of 289 ...
607339.G.1.13LebanonYes Premature coronary artery atherosclerosi...NG_011963.2:g.57503G>AHeterozygousAutosomal, DominantAlwan et al. 2010 From a study of 289 ...
607339.G.1.14LebanonYes Premature coronary artery atherosclerosi...NG_011963.2:g.57503G>AHomozygousAutosomal, DominantAlwan et al. 2010 From a study of 289 ...
607339.G.2Lebanon Coronary artery atherosclerosisNM_000506.4:c.*97G>AHeterozygousAutosomal, DominantIrani-Hakime et al. 2001 Study of 69 patients...
607339.G.3.1Lebanon Coronary artery atherosclerosisNM_000789.4:c.2306-105_2306-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTTHomozygousAutosomal, DominantAbchee et al. 2010 127 patients. D alle...
607339.G.3.2Lebanon Coronary artery atherosclerosisNM_000789.4:c.2306-105_2306-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTTHeterozygousAutosomal, DominantAbchee et al. 2010 131 patients. D alle...
607339.G.4Lebanon Coronary artery atherosclerosisCYP2E1*6 Allele NM_000773.4:c.967+1143T>A, CYP2E1*5B Allele NM_000773.3:c.[-1295G>C;-1055C>T]Zgheib et al. 2010 Among 231 patients w...

Other Reports

Saudi Arabia

Vatte et al., (2016) performed a case-control study with 1002 angiographically defined CAD patients from the Eastern Province of Saudi Arabia and 984 controls lacking CAD based on echocardiogram and negative family history.  The aim was to understand whether the KIF6 719Arg allele is associated with CAD in the studied group of patients.  The authors found a lack of association between KIF6 Trp719Arg SNP and CAD (OR 0.976 95% CI 0.86-1.11; P=.704).  Patients with CAD were stratified into two groups; one with Myocardial Infarction (MI) and the other group did not have MI and both groups were lacking the KIF6 Trp719Arg SNP association.  The authors concluded that carriers of the KIF6 719Arg allele did not have an increased risk of CAD and non-fatal MI among patients from Eastern Province of Saudi Arabia.  This finding was in line with previous studies conducted worldwide.  

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