Effect of the APOC3 Sst I SNP on fasting triglyceride levels in men heterozygous for the LPL P207L deficiency

European Journal of Human Genetics

Volumn 13, Issue 10, 2005, Pages 1159-1165

  Garenc, Christophe ^a   Couillard, Charles ^a   Laflamme, Nathalie ^a   Cadelis, Fraņois ^a   Gagné, Claude ^a   Couture, Patrick ^a   Julien, Pierre ^a   Bergeron, Jean ^a  

^a LAVAL UNIVERSITY   (Canada)

Author keywords

APOC3 polymorphisms; Atherogenic dyslipidemia; Chylomicrons; LPL deficiency; Triglycerides

Indexed keywords

APOLIPOPROTEIN B; APOLIPOPROTEIN C3; CHOLESTEROL; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LIPID; LOW DENSITY LIPOPROTEIN; TRIACYLGLYCEROL; VERY LOW DENSITY LIPOPROTEIN;

ADULT; AGED; ARTICLE; CHOLESTEROL BLOOD LEVEL; CLINICAL ARTICLE; CONTROLLED STUDY; DIET RESTRICTION; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENOTYPE; HETEROZYGOSITY; HUMAN; MALE; OBESITY; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; TRIACYLGLYCEROL BLOOD LEVEL;

ADULT; AGED; APOLIPOPROTEIN C-III; APOLIPOPROTEINS C; BODY MASS INDEX; HETEROZYGOTE; HUMANS; LIPOPROTEIN LIPASE; MALE; MIDDLE AGED; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; TRIGLYCERIDES;

EID: 27144511712     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201469     Document Type: Article

References (35)

1. Murthy V, Julien P, Gagné C: Molecular pathobiology of the human lipoprotein lipase gene. Pharmacol Ther 1996; 70: 101-135.
2. Julien P, Gagné C, Murthy MR et al: Dyslipidemias associated with heterozygous lipoprotein lipase mutations in the French-Canadian population. Hum Mutat 1998; (Suppl 1): S148-S153.
3. Julien P, Gagné C, Murthy MRV et al: Mutations of the lipoprotein lipase gene as a cause of dyslipidemias in the Québec population. Can J Cardiol 1994; 10: 54B-60B.
4. Julien P, Vohl MC, Gaudet D et al: Hyperinsulinemia and abdominal obesity affect the expression of hypertriglyceridemia in heterozygous familial lipoprotein lipase deficiency. Diabetes 1997; 46: 2063-2068.
5. Jong MC, Hofker MH, Havekes LM: Role of ApoCs in lipoprotein metabolism: functional differences between ApoC1, ApoC2, and ApoC3. Arterioscler Thromb Vasc Biol 1999; 19: 472-484.
6. McConathy WJ, Gesquiere JC, Bass H, Tartar A, Fruchart JC, Wang CS: Inhibition of lipoprotein lipase activity by synthetic peptides of apolipoprotein C-III. J Lipid Res 1992; 33: 995-1003.
7. Dallongeville J, Lussier-Cacan S, Davignon J: Modulation of plasma triglyceride levels by apoE phenotype: A meta-analysis. J Lipid Res 1992; 33: 447-454.
8. Davignon J, Gregg RE, Sing CF: Apolipoprotein E polymorphism and atherosclerosis. Arteriosclerosis 1988; 8: 1-21.
9. Corella D, Guillén M, Saiz C et al: Associations of LPL and APOC3 gene polymorphisms on plasma lipids in a Mediterranean population. Interaction with tobacco smoking and the apoe locus. J Lipid Res 2002; 43: 416-427.
10. Dammerman M, Sandkuijl LA, Halaas JL, Chung W, Breslow JL: An apolipoprotein CIII haplotype protective against hypertriglyceridemia is specified by promoter and 3′ untranslated region polymorphisms. Proc Natl Acad Sci USA 1993; 90: 4562-4566.
11. Shoulders CC, Grantham TT, North JD et al: Hypertriglyceridemia and the apolipoprotein CIII gene locus: Lack of association with the variant insulin response element in Italian school children. Hum Genet 1996; 98: 557-566.
12. Sijbrands EJ, Hoffer MJ, Meinders AE et al: Severe hyperlipidemia in apolipoprotein E2 homozygotes due to a combined effect of hyperinsulinemia and an Sst I polymorphism. Arterioscler Thromb Vasc Biol 1999; 19: 2722-2729.
13. Kypreos KE, Li X, van Dijk KW, Havekes LM, Zannis VI: Molecular mechanisms of type III hyperlipoproteinemia: The contribution of the carboxy-terminal domain of ApoE can account for the dyslipidemia that is associated with the E2/E2 phenotype. Biochemistry 2003; 42: 9841-9853.
14. Ko YL, Ko YS, Wu SM et al: Interaction between obesity and genetic polymorphisms in the apolipoprotein CIII gene and lipoprotein lipase gene on the risk of hypertriglyceridemia in Chinese. Hum Genet 1997; 100: 327-333.
15. Lohman TG, Roche AF, Martorell R: The Airlie (VA) Consensus Conference; in Lohman TG, Roche AF, Martorell R (eds): Anthropometric Standardization Reference Manual. Champaign, IL: Human Kinetics, 1988, pp 39-80.
16. Moorjani S, Dupont A, Labrie F et al: Increase in plasma high-density lipoprotein concentration following complete androgen blockage in men with prostatic carcinoma. Metabolism 1987; 36 244-250.
17. Burstein M, Samille J: Sur un dosage rapide du cholesterol lié aux β-lipoprotéines du sérum. Clin Chim Acta 1960; 5: 609-610.
18. Laurell CB: Quantitative estimation of proteins by electrophoresis in agarose gel containing antibodies. Anal Biochem 1960; 5: 609-610.
19. Bijvoet AM, Hayden MR: Mismatch PCR: a rapid method to screen for the Pro207 → Leu mutation in the lipoprotein lipase (LPL) gene. Hum Mol Genet 1992; 1: 541.
20. Hixson JE, Vernier DT: Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with HhaI. J Lipid Res 1990; 31: 545-548.
21. de Bruin TW, Mailly F, van Barlingen HH et al: Lipoprotein lipase gene mutations D9N and N291S in four pedigrees with familial combined hyperlipidaemia. Eur J Clin Invest 1996; 26: 631-639.
22. Monsalve MV, Henderson H, Roederer G et al: A missense mutation at codon 188 of the human lipoprotein lipase gene is a frequent cause of lipoprotein lipase deficiency in persons of different ancestries. J Clin Invest 1990; 86: 728-734.
23. Garenc C, Aubert S, Laroche J et al: Population prevalence of APOE, APOC3 and PPAR-alpha mutations associated to hypertriglyceridemia in French Canadians. J Hum Genet 2004; 49: 691-700.
24. Kaser S, Sandhofer A, Holzl B et al: Phospholipid and cholesteryl ester transfer are increased in lipoprotein lipase deficiency. J Intern Med 2003; 253: 208-216.
25. Nishida HI, Nakanishi T, Yen EA, Arai H, Yen FT, Nishida T: Nature of the enhancement of lecithin-cholesterol acyltransferase reaction by various apolipoproteins. J Biol Chem 1986; 261: 12028-12035.
26. Sparks DL, Pritchard PH: Transfer of cholesteryl ester into high density lipoprotein by cholesteryl ester transfer protein: Effect of HDL lipid and apoprotein content. J Lipid Res 1989; 30: 1491-1498.
27. Rees A, Shoulders CC, Stocks J, Galton DJ, Baralle FE: DNA polymorphism adjacent to human apoprotein A-1 gene: Relation to hypertriglyceridaemia. Lancet 1983; 1: 444-446.
28. Dallinga-Thie GM, Bu XD, van Linde-Sibenius Trip M, Rotter JI, Lusis AJ, de Bruin TW: Apolipoprotein A-I/C-III/A-IV gene cluster in familial combined hyperlipidemia: Effects on LDL-cholesterol and apolipoproteins B and C-III. J Lipid Res 1996; 37: 136-147.
29. Dallongeville J, Meirhaeghe A, Cottel D, Fruchart JC, Amouyel P, Helbecque N: Polymorphisms in the insulin response element of APOC-III gene promoter influence the correlation between insulin and triglycerides or triglyceride-rich lipoproteins in humans. Int J Obes Relat Metab Disord 2001; 25: 1012-1017.
30. Surguchov AP, Page GP, Smith L, Patsch W, Boerwinkle E: Polymorphic markers in apolipoprotein C-III gene flanking regions and hypertriglyceridemia. Arterioscler Thromb Vasc Biol 1996; 16 941-947.
31. Olivieri O, Bassi A, Stranieri C et al: Apolipoprotein C-III, metabolic syndrome, and risk of coronary artery disease. J Lipid Res 2003; 44: 2374-2381.
32. Talmud PJ, Humphries SE: Apolipoprotein C-III gene variation and dyslipidaemia. Curr Opin Lipidol 1997; 8: 154-158.
33. Couillard C, Vohl MC, Engert JC et al: Effect of apoC-III gene polymorphisms on the lipoprotein-lipid profile of viscerally obese men. J Lipid Res 2003; 44: 986-993.
34. Kobayashi J, Tashiro J, Bujo H, Morisaki N, Saito Y: Effect of lipoprotein lipase on binding of chylomicrons to LDL receptor-deficient Chinese hamster ovary cells. Ann Clin Biochem 2001; 38: 124-128.
35. Hertz R, Bishara-Shieban J, Bar-Tana J: Mode of action of peroxisome proliferators as hypolipidemic drugs. Suppression of apolipoprotein C-III. J Biol Chem 1995; 270: 13470-13475.