Genetic background of coronary artery disease: clinical implications and perspectives

ABSTRACT

Introduction

Both genetic background and life-style factors influence coronary artery disease (CAD) individual risk and clinical manifestations.

Areas covered

Over the last decades, cardiovascular disease (CVD) emerged as the most important cause of morbidity and mortality worldwide, leading the scientific community to nourish increased interest in cardiovascular risk factors control. Several cohort studies have shown that a family history of ischemic heart disease is common among patients suffering from CAD, suggesting that genetic factors play a role of utmost relevance. The techniques used to study the genetic basis of these diseases have evolved from linkage studies to candidate gene studies and genome-wide association studies (GWAS). Linkage studies have been able to identify genetic variants associated with monogenic diseases, whereas genome-wide association studies have been more successful in determining genetic variants associated with complex diseases. However, family context transmits not only genetic information, but also attitudes and lifestyle habits which proved to significantly influence the overall cardiovascular risk.

Expert opinion

In the era of patient-tailored management, the aim of this review is to summarize the genetic background of patients with CAD, focusing on the most updated gene-targeted therapies, providing potential future perspectives of pharmacogenetics utility in daily clinical practice.

KEYWORDS:

• Cardiovascular disease
• pharmacogenetics
• personalized medicine

Article highlights

• Over the last years, remarkable advances in human genetics have been obtained, revolutionising our knowledge of cardiovascular diseases.

• The experimental design of genome-wide association studies (GWAS) allowed to detect allelic variants associated with complex traits in the population, pointing out associations between single-nucleotide polymorphisms (SNPs) and common diseases, including CVD.

• For the years to come, we expect an increase in general availability and a reduction in costs of gene-testing in order to provide the possibility of a whole-genome sequencing during childhood in selected subsets.

• Wide-scale genetic tests would allow to outline high-risk population, to find out potential biomarkers for non-invasive early diagnosis and to identify new therapeutic.

Declaration of Interest

No potential conflict of interest was reported by the authors.