Novel Genetic Variants Linked to Heart Disease

Filed in archive Genomics, Proteomics and Bioinformatics on January 14, 2008

An international collaboration of scientists have discovered more than 25 genetic variants in 18 genes linked to cholesterol and lipid levels. Such findings may help in estimating an individual's genetic risk of heart disease, as well as lead to a better understanding of cholesterol metabolism and possibly to the discovery of novel new cholesterol-lowering drugs.

To systematically identify genetic variants associated with blood lipid levels, Kathiresan and his colleagues scanned the genomes of over 27,000 people to locate common single-letter variations called single nucleotide polymorphisms (SNPs). This work produced a list of 18 SNPs reproducibly associated with levels of LDL cholesterol, HDL cholesterol, or triglycerides. Twelve of the SNPs were already known to influence lipid levels, underscoring the power of the genome scanning technique to find key genes. Importantly, the remaining six SNPs turned out to be entirely new: two are associated with LDL cholesterol, one with HDL cholesterol, and five with triglycerides.

Importantly, the study identified many of the established and emerging targets for drug therapy, such as the HMGCR gene, which is a target of so-called "statin" medications that lower LDL cholesterol, and the PCSK9 gene. This suggests that some of the newly identified gene regions may eventually become new targets for drug therapy.

The study has been published online (Jan 13) and in the February print issue of nature genetics.

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