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news.Researchers at the San Diego-based Scripps Translational Science Institute (STSI) have been able to decipher the mechanism of heart disease at the molecular and genomic levels.
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STSI is an initiative of Scripps Health in collaboration with The Scripps Research Institute.
The study establishes a link between coronary artery disease (CAD) and genetic susceptibility resulting in an abnormal inflammatory signaling response in a segment of the genome on chromosome 9 (9p21).
Prior genome-wide association studies have identified eight genetic variants in a region of 9p21.
These genetic variants, known as single nucleotide polymorphisms (SNPs), in the 9p21 gene desert are strongly associated with CAD and other vascular diseases.
The findings are significant since heart disease is major cause of death of adults in the US.
Scripps Health chief academic officer and corresponding co-senior author of the study Eric Topol said it was an extraordinary hunt to find how the risk DNA variant was exerting its effect, and to find that it happened through a gene known as STAT-1, a vital mediator of inflammation.