Scientists have identified a rare genetic variant that is associated with lower levels of triglycerides, according to a study to be published online in Nature Genetics. Triglycerides are the stored form of fat, and elevated levels have been linked to risk of coronary artery disease.
The genetic contribution to common diseases takes the form of common variants - those found at frequencies greater than 5% - and rare variants. One strategy to identify rare variants is to resequence candidate genes in a number of individuals. Jonathan Cohen and colleagues report the first application of this strategy in a large population. The authors studied more than 3,500 individuals from the Dallas Heart Study, whose lipid and glucose metabolism has been characterized in detail. They sequenced the gene ANGPTL4, which encodes a hormone involved in lipid metabolism, in each of these individuals. They found that those individuals with the lowest levels of triglycerides had more variation in ANGPTL4, and one variant in particular was associated with a 27% reduction in triglyceride levels, compared with individuals who lack the variant.
This association was confirmed in two other large population-based studies. Overall, this study confirms the value of the resequencing approach in identifying genetic variants that influence disease-related traits.
Jonathan Cohen (University of Texas Southwestern Medical Center, Dallas, TX, USA)
Abstract available online.
(C) Nature Genetics press release.
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