Genetic Risk in Coronary Artery Disease

Coronary artery disease (CAD) is a leading cause of death worldwide. It is most commonly caused by atherosclerosis in coronary arteries. Coronary artery disease has a complex etiology, mainly a combination of traditional risk factors and genetic predisposition. Traditional risk factors include type 2 diabetes, dyslipidemia, arterial hypertension, and cigarette smoking. However, these are not sufficient to identify high risk asymptomatic individuals and do not explain all cases of CAD. In fact, hereditary influence on CAD susceptibility accounts for between 40% and 50% of cases.

Polymorphisms are common genetic variations, defined as being present in more than 1% of the population. A polymorphism is a nucleotide substitution that does not alter the primary amino acid structure of the resulting protein. A single-nucleotide polymorphism (SNP) is a variation in DNA in a single nucleotide that occurs at a specific position in the genome. An SNP may be a marker of disease susceptibility. Populations of healthy and affected individuals can be evaluated by genotyping SNP within a gene and its regulatory sequences. Genome-wide association studies (GWAS) have been used to create genetic risk scores to improve CAD risk prediction.^– However, their value as an independent risk predictor for CAD is not clear.

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