Lipoprotein lipase (LPL) is one of the most important rate-limiting enzymes of triglyceride-rich lipoprotein catabolism, and loss of LPL function often leads to hypertriglyceridemia and cardiovascular disease. In a Northern Irish population, Wright et al. carried out a complete sequence analysis of the LPL gene in 19 individuals with severe hypertriglyceridemia [triglyceride levels ≥14 mmol/l] and identified 42 sequence variants. Moreover, 8 of those subjects were characterized by functional variants such as p.D36N, p.R197H, p.N318S, and p.V340I. In a larger case-control population, the p.N318S variant was found to be closely associated with hypertriglyceridemia [13% of cases (triglycerides ≥5 mmol/l) had the AG genotype vs. 4% for controls (triglycerides <2 mmol/L)]. This report, along with many other published studies, supports the view that LPL is an important candidate gene for hypertriglyceridemia. The authors suggested that gene-environment studies should be conducted to evaluate the effect of alcohol intake, diabetes, or obesity on the relationship between LPL gene variants and hypertriglyceridemia.
Documentation centre