Ser19-->Trp polymorphism within the apolipoprotein AV gene in hypertriglyceridaemic people.

Cardiovascular disease (CVD) is the most common cause of death in industrialised countries. Raised plasma triglycerides (TGs) have been shown to be an independent risk factor for CVD. Recently, a new gene designated APOAV has been identified in the APOAI/APOCIII/APOAIV gene cluster by comparative sequencing by Pennacchio et al. The human APOAV gene consists of four exons and codes for a 369 amino acid protein, which is only expressed in the liver. Generation of transgenic and knockout mice assessed the importance of this gene for plasma TG determination. The transgenic mice show decreased and the knockout mice increased concentrations of plasma TGs, whereas the plasma cholesterol concentrations are not influenced significantly. In the human APOAV gene, T-1131C (originally referred to as SNP3) and Ser19→Trp polymorphisms have been detected. Associations between these polymorphisms and TG concentrations have been found in healthy, non-smoking subjects not receiving lipid lowering medication as well as in different population samples. The C allele of the T-1131C polymorphism was found to be associated with extreme concentrations of plasma TGs. 6 The aim of this study was to evaluate the putative association of a common APOAV variation (Ser19→Trp) in those with extreme plasma TG concentrations.