This Month in Genetics

It ’s not the first time it’s happened, but rare variation in individuals with exceptional lipid profiles has again pointed to a new target for intervention in cardiovascular disease. Exome sequencing in more than one study has revealed rare, loss-of-function variation in ANGPTL3—which encodes an endogenous lipoprotein lipase inhibitor—in individuals with very low levels of triglycerides and low-density lipoprotein (LDL) cholesterol. Expanding the implications of this finding, Dewey et al. report that heterozygous carriers of these rare variants also have lower levels than non-carriers of triglycerides, LDL cholesterol, and high-density lipoprotein (HDL) cholesterol.
Source: The American Journal of Human Genetics - Category: Genetics & Stem Cells Authors: Tags: Editors' Corner Source Type: research