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Effect of the APOC3 Sst I SNP on fasting triglyceride levels in men heterozygous for the LPL P207L deficiency.
Eur J Hum Genet. 2005 Oct; 13(10):1159-65.EJ

Abstract

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.

Authors+Show Affiliations

Lipid Research Centre (CRML), CHUL Research Centre, Centre Hospitalier Universitaire de Québec (CHUQ), Sainte-Foy, QC, Canada.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

16015281

Citation

Garenc, Christophe, et al. "Effect of the APOC3 Sst I SNP On Fasting Triglyceride Levels in Men Heterozygous for the LPL P207L Deficiency." European Journal of Human Genetics : EJHG, vol. 13, no. 10, 2005, pp. 1159-65.
Garenc C, Couillard C, Laflamme N, et al. Effect of the APOC3 Sst I SNP on fasting triglyceride levels in men heterozygous for the LPL P207L deficiency. Eur J Hum Genet. 2005;13(10):1159-65.
Garenc, C., Couillard, C., Laflamme, N., Cadelis, F., Gagné, C., Couture, P., Julien, P., & Bergeron, J. (2005). Effect of the APOC3 Sst I SNP on fasting triglyceride levels in men heterozygous for the LPL P207L deficiency. European Journal of Human Genetics : EJHG, 13(10), 1159-65.
Garenc C, et al. Effect of the APOC3 Sst I SNP On Fasting Triglyceride Levels in Men Heterozygous for the LPL P207L Deficiency. Eur J Hum Genet. 2005;13(10):1159-65. PubMed PMID: 16015281.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Effect of the APOC3 Sst I SNP on fasting triglyceride levels in men heterozygous for the LPL P207L deficiency. AU - Garenc,Christophe, AU - Couillard,Charles, AU - Laflamme,Nathalie, AU - Cadelis,François, AU - Gagné,Claude, AU - Couture,Patrick, AU - Julien,Pierre, AU - Bergeron,Jean, PY - 2005/7/15/pubmed PY - 2005/11/9/medline PY - 2005/7/15/entrez SP - 1159 EP - 65 JF - European journal of human genetics : EJHG JO - Eur J Hum Genet VL - 13 IS - 10 N2 - 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. SN - 1018-4813 UR - https://www.unboundmedicine.com/medline/citation/16015281/Effect_of_the_APOC3_Sst_I_SNP_on_fasting_triglyceride_levels_in_men_heterozygous_for_the_LPL_P207L_deficiency_ DB - PRIME DP - Unbound Medicine ER -