A Novel Genetic Variant in the Apolipoprotein A5 Gene Is Associated with Hypertriglyceridemia

The apolipoprotein A5 gene (APOA5 ) has been shown to play an important role in determining plasma triglyceride concentrations in humans. We describe here a novel variant, c.553G>T, in the apolipoprotein A5 gene that is associated with hypertriglyceridemia. In contrast to some other polymorphisms, which occur in non-coding regions of the gene , this variant occurs within the coding region and causes the change of amino acid sequence (a substitution of a cysteine for a glycine residue). The minor allele frequencies were 0.042 and 0.27 (PT polymorphisms in APOA5 as prognostic indicators for hypertriglyceridemia susceptibility in Chinese