Genetics of coronary artery disease: discovery, biology and clinical translation

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.

LIPA Variants in Genome-Wide Association Studies of Coronary Artery Diseases

“…Genome wide association studies (GWASs) have identified multiple coronary artery disease (CAD) risk loci, 1 yet moving from association to mechanistic insights and therapeutic translation remains a major challenge. 2 A number of GWASs have identified LIPA as a novel locus for CAD.…”

Putative medicines that mimic mutations

“…There are seven genes in which rare mutations are known to protect against heart attack, and in four of these, the protective mutations seem to work by improving clearance of TRLs 15 . Therefore, strategies that enhance TRL breakdown, including by inhibiting ANGPTL3, are likely to be a fruitful therapeutic approach.…”

Fibrinolytic Enzyme: Restoration Tool for Obliteration of Blood Clots

“…It is difficult to break down fibrin clot due to permeability gets lower. In result clot blocks blood vessels and stroke occurs [26].…”