William L. Roberts, MHA, CPA

The modern era of the application of molecular biology and recombinant DNA techniques is claimed to be initiated in the early 1970s due to four discoveries.

Much work has been put in to discovering genetic variants predisposing to CAD since the first, 9p21, was discovered in 2007. The CAD phenotype in the original study and subsequent association studies did not differentiate MI and CAD.

Mitral valve prolapse is known to be one of the most common cardiac abnormalities in the general population.

Inherited defects affecting the heart at birth are the most common of all birth defects in the world. About 5% of congenital heart defects are due to atrioventricular septal defects and the prevalence is about 0.4% per 1,000 live births.

Genetic variants associated solely with increased levels of plasma HDL cholesterol are not associated with the expected decrease in risk for MI.

In a large genome-wide association study, a genetic variant predisposing to CAD was identified on the short arm of chromosome 6 (6p21.3).

In an international consortium of 14 genome-wide association studies, 23 genetic risk variants were validated as having an association with coronary artery disease.

Utilizing genome-wide association studies, the deCODE group has identified a single nucleotide polymorphism in the alpha-myosin heavy chain — MYH6 — that predisposes to sick sinus syndrome.

Genome-wide association studies in the past 5 years have identified multiple genetic risk variants predisposing to coronary artery disease.

My laboratory while at Baylor College of Medicine had access to the DNA of a family in Newfoundland having several affected members with arrhythmogenic right ventricular dysplasia.