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Studies find gene variants linked to blood cholesterol levels

16 August 2010
Appeared in BioNews 571

Two new studies published in Nature have found more gene variants associated with blood cholesterol levels. 

Raised cholesterol can lead to an increased risk of heart attack and stroke, and low-density lipoprotein (LDL-C) cholesterol or 'bad' cholesterol has been shown to be especially problematic, with doctors regularly prescribing Statins (cholesterol lowering drugs) and dietary change. 

In the first study Dr Tanya Teslovich and a group of International colleagues conducted a genome-wide association study (GWAS) on 100,000 people of European origin. They discovered 95 new loci associated with lipid traits, which included SNPs (single nucleotide polymorphisms), near known lipid regulators (such as CYP7A1), as well as other loci not previously linked to lipoprotein metabolism.   

The second study by Dr Kiran Musunuru and colleagues showed that the Sort1 gene alters plasma LDL-C and very low-density lipoprotein (VLDL) particle levels, with the authors suggesting that their data 'demonstrate common noncoding DNA variants identified by GWAS's can directly contribute to clinical phenotypes'.

This research further highlights the role that genetic factors along with environment play in regulating cholesterol.  

Both studies are published in the 5th August edition of Nature

Biological, clinical and population relevance of 95 loci for blood lipids
Nature |  5 August 2010
From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus
Nature |  5 August 2010
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