In the current study, the researchers focused on specific gene variants, called single nucleotide polymorphisms (SNPs), that occur when a single nucleotide building block in the long strand of DNA is altered. The researchers sought SNPs that occurred more or less often in individuals with coronary artery disease than in individuals without it, as such a link would indicate that these gene variants were associated with the disease.
The researchers first obtained DNA from 500 patients who had volunteered to be studied while being examined at the cardiac catheterization laboratories at Duke University Hospital. Using these DNA samples, the researchers scanned the same small section of chromosome 3 for SNPs that differed in sequence between individuals with and without coronary heart disease.
One SNP, in the kalirin gene, varied between individuals with heart disease and those without. The researchers repeated the same experiment in four additional patient populations, scanning the DNA of a total of 4,000 individuals, and turned up the same result.
"This finding opens up a whole new area of study for looking at risks of cardiovascular disease," said senior study investigator Jeffrey M. Vance, M.D., Ph.D., director of the Center for Molecular Genetics and Genomic Medicine, Miami Institute for Human Genomics at the Miller School of Medicine.
The researchers are now studying kalirin in the blood vessels to see how variations in the gene contribute to cardiovascular disease.
So far, they have found that this particular SNP is significantly correlated with the degree of atherosclerosis in human aortas, the large blood vessel that brings b
Source:Duke University Medical Center