Genetics of the lipoprotein lipase gene and hypertriglyceridaemia

The aim of this study is to assess whether genetic variation at the lipoprotein lipase (LPL) gene is related to fasting triglyceride levels or to the presence of vascular disease. Hypertriglyceridaemic patients are genotyped for the N291S, G188E, and P207L variants and the HindIII and PvuII restriction fragment length polymorphisms of the LPL gene. Sequence analysis is carried out on exons 1-9 of the LPL gene for patients with severe hypertriglyceridaemia, to search for new gene variants. No differences were found between the patient and control group for the N291S, G188E and P207L variants. The HindIII and PvuII allelic frequencies were found to be similar for patients and controls; however, the frequency of the PvuII P2 allele was higher in patients with vascular disease (allele frequency: 0.56) than patients with no vascular disease (allele frequency, 0.42) (P=0.03). Sequence analysis revealed no exon sequence variants in the LPL gene but two intron sequence variants were found in intron 5 in two patients.