Two international studies published in a leading journal this week have pinpointed genes for cholesterol and heart disease that could be important targets for treatment, and demonstrate the potential clinical value of "genome scanning" or GWAS, genome wide association studies, in developing new diagnostic tests and therapies for diseases with genetic risks
In the first study, researchers showed how a region on chromosome 1 that earlier GWAS research had already linked to "bad" cholesterol (low-density lipoprotein cholesterol, LDL-C) and heart attacks (myocardial infarction, MI) regulate the LDL-C pathway.
In the second study, a GWAS consortium with some of the same researchers in the first study, analysed the genomes of over 100,000 people of European descent and found 95 variants, including 59 previously unknown, that influence lipid traits linked to coronary heart disease.
Both studies were published online in Nature on 5 August. Dr Daniel J Rader, professor of Medicine and Pharmacology at the University of Pennsylvania School of Medicine in Philadelphia, was co-lead author of the first study and also worked on the second.
In the first study, Rader and colleagues showed that a common gene variant on chromosome 1 (specifically a locus on chromosome 1p13) creates a transcription factor binding site that alters the amount of certain genes expressed in the liver. One of these genes is Sort1, which codes for the protein sortilin, already known to be responsible for the cardiovascular effects of chromosome 1.
(Medical News Today)
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