KIF6 p.Trp719Arg testing for coronary artery disease
Coronary artery disease (CAD; also known as coronary heart disease or CHD) is a leading cause of death worldwide. In the United States, CAD is the leading cause of death for both men and women, responsible for more than 500,000 deaths each year. Symptoms of CAD include chest pain, irregular heartbeat, heart attack, and heart failure. Risk factors include smoking, obesity, high blood pressure, high low-density lipoprotein cholesterol (LDL-C) levels, physical inactivity, and a family history of CAD. Genome-wide association studies (GWAS) have revealed connections between a number of common single nucleotide polymorphisms (SNPs) and CAD and other cardiovascular diseases. A SNP located in the kinesin-like family 6 (KIF6) gene has recently emerged as a focus of study. The SNP substitutes a thymidine (T) for a cytosine (C), resulting in substitution of arginine for tryptophan at amino acid 719 (p.Trp719Arg) of the KIF6 protein.
- Coronary Artery Disease