La. Pennacchio et al., An apolipoprotein influencing triglycerides in humans and mice revealed bycomparative sequencing, SCIENCE, 294(5540), 2001, pp. 169-173
Comparison of genomic DNA sequences from human and mouse revealed a new apo
lipoprotein (APO) gene (APOAV) located proximal to the well-characterized A
POAI/CIII/AIV gene cluster on human 11q23. Mice expressing a human APOAV tr
ansgene showed a decrease in plasma triglyceride concentrations to one-thir
d of those in control mice; conversely, knockout mice lacking Apoav had fou
r times as much plasma triglycerides as controls. In humans, single nucleot
ide polymorphisms (SNPs) across the APOAV locus were found to be significan
tly associated with plasma triglyceride levels in two independent studies.
These findings indicate that APOAV is an important determinant of plasma tr
iglyceride levels, a major risk factor for coronary artery disease.