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Gene Variant that Dramatically Reduced 'Bad' Lipids

17 September 2014

Research using data collected from around 4,000 healthy people in the UK has enabled scientists to identify a rare genetic variant that dramatically reduces levels of certain types of lipids in the blood

The study, published today [16 September] in Nature Communications, is the first to emerge from the UK10K Project’s cohort of samples from the general public and demonstrates the power of whole genome sequencing at scale.

By looking at whole genome sequences from 4,000 people and comparing this with data about their lipid levels, a group of scientists led by the University of Bristol spotted an association between levels of lipids called triglycerides and the presence of the APOC3 gene variant.

Dr Nicholas Timpson, first author from the Medical Research Council (MRC) Integrative Epidemiology Unit at the University of Bristol, said: “Until now it has only been possible to look for common variants of small effect in large genome wide association studies.

“Thanks to the quantity of data available through the UK10K Project and because of the relatively large effect of this variant, we have been able to find a raregenetic variant that has clinical relevance.”

The full University of Bristol press release can be found at

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