Whole-exome sequencing identifies novel protein-altering variants associated with serum apolipoprotein and lipid concentrations

ConclusionsWe identified lipid and apolipoprotein-associated variants in the previously knownLIPC andAPOB genes, as well as PAVs inGTF3C5 associated with LDLC, and inRBM47 associated with apolipoprotein C-III concentrations, implicated as an independent CVD risk factor. Identification of rare loss-of-function variants has previously revealed genes that can be targeted to prevent CVD, such as the LDL cholesterol-lowering loss-of-function variants in thePCSK9 gene. Thus, this study suggests novel putative therapeutic targets for the prevention of CVD.
Source: Genome Medicine - Category: Genetics & Stem Cells Source Type: research