مقاله انگلیسی رایگان در مورد ژنتیک بیماری شریان کرونری: کشف، زیست شناسی و تفسیر بالینی – Nature 2017

Abstract

Coronary artery disease is the leading global cause of mortality. Long recognized to be heritable, recent advances have started to unravel the genetic architecture of the disease. Common variant association studies have linked about 60 genetic loci to coronary risk. Large-scale gene sequencing efforts and functional studies have facilitated a better understanding of causal risk factors, elucidated underlying biology and informed the development of new therapeutics. Moving forward, genetic testing could enable precision medicine approaches, by identifying subgroups of patients at increased risk of CAD or those with a specific driving pathophysiology in whom a therapeutic or preventive approach is most useful.

Introduction

Observational epidemiology and translational research efforts have led to significant progress in improving the understanding of the pathophysiology underlying coronary artery disease (CAD) (Box 1). Prevention and treatment strategies developed on the basis of this knowledge led to a >50% decrease in age-adjusted CAD mortality rate in the United States of America between 1980 and 2000. However, despite these advances, CAD remains the leading global cause of mortality. More than 900,000 individuals in the United States will suffer a myocardial infarction (‘heart attack’) or die of CAD this year.