Effect of the APOC3 Sst I SNP on fasting triglyceride levels in men heterozygous for the LPL P207L deficiency
| Autor: | Jean Bergeron, Christophe Garenc, Charles Couillard, Pierre Julien, Nathalie Laflamme, Patrick Couture, François Cadelis, Claude Gagné |
|---|---|
| Rok vydání: | 2005 |
| Předmět: |
Adult
Male Heterozygote medicine.medical_specialty Very low-density lipoprotein Apolipoprotein B Single-nucleotide polymorphism Polymorphism Single Nucleotide Body Mass Index chemistry.chemical_compound Lipoprotein lipase deficiency Internal medicine Genetics medicine Humans Apolipoproteins C Triglycerides Genetics (clinical) Aged Apolipoprotein C-III Lipoprotein lipase Triglyceride biology Cholesterol nutritional and metabolic diseases Middle Aged medicine.disease Lipoprotein Lipase Phenotype Endocrinology chemistry biology.protein lipids (amino acids peptides and proteins) Chylomicron |
| Zdroj: | European Journal of Human Genetics. 13:1159-1165 |
| ISSN: | 1476-5438 1018-4813 |
| DOI: | 10.1038/sj.ejhg.5201469 |
| Popis: | Lipoprotein lipase (LPL) plays a major role in triglyceride (TG)-rich lipoprotein catabolism. A mutation at codon 207 (P207L) in the exon 5 of the LPL gene has been associated with 50% reduction in postheparin plasma LPL activity and significant increase in plasma TG levels in heterozygous individuals with low HDL. However, heterogeneity in fasting TG concentrations among these carriers suggests that other factors may be involved in the expression of this hypertriglyceridemic state. Indeed, previous studies have shown that the rare S2 allele of the APOC3 Sst I polymorphism was associated with higher concentrations of TG levels in noncarriers of LPL defect. Therefore, we investigated the association of the APOC3 Sst I variant on fasting lipoprotein-lipid levels in a sample of 35 heterozygous men bearing the LPL P207L mutation. Genetic association analyses were performed using the two-genotype groups S1/S1 and S1/S2. The genotype S1/S2 group was characterized by greater plasma cholesterol (plasma-C, P=0.02), plasma-TG (P=0.04), very low-density lipoproteins (VLDL)-C (P=0.004), VLDL-TG (P=0.01), VLDL-apolipoprotein B (apoB) (P=0.001) levels and cholesterol/HDL-C ratio (P=0.008), as well as lower VLDL-TG/VLDL-apoB ratio compared to the S1/S1 genotype group. These results support an exacerbating effect of the APOC3 Sst I single-nucleotide polymorphism on fasting TG levels since a large number of smaller VLDL particles are observed in LPL-deficient men bearing the APOC3 S2 allele. |
| Databáze: | OpenAIRE |
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