Gene polymorphisms in the Quebec population: A risk to develop hypertriglyceridemia

Biochemical and Biophysical Research Communications

Volumn 344, Issue 2, 2006, Pages 588-596

  Garenc, Christophe ^a   Aubert, Samuel ^a   Laroche, Jerôme ^b   Bergeron, Jean ^a   Gagné, Claude ^a   Rousseau, François ^c   Julien, Pierre ^a  

^a LAVAL UNIVERSITY   (Canada)

^b UNIVERSITÉ LAVAL   (Canada)

^c Unité de Recherche en Génétique Humaine et Moléculaire   (Canada)

Author keywords

Apolipoprotein E; Genetic epidemiology; Hypertriglyceridemia; Lipoprotein lipase deficiency; Peroxisome proliferator activated receptors

Indexed keywords

APOLIPOPROTEIN E; LIPOPROTEIN LIPASE; PEROXISOME PROLIFERATOR ACTIVATED RECEPTOR ALPHA; PEROXISOME PROLIFERATOR ACTIVATED RECEPTOR GAMMA 2;

ARTICLE; CANADA; COHORT ANALYSIS; COMPARATIVE STUDY; CONTROLLED STUDY; DISEASE PREDISPOSITION; ENZYME DEFICIENCY; FREQUENCY ANALYSIS; GENE FREQUENCY; GENE MUTATION; GENETIC EPIDEMIOLOGY; GENETIC POLYMORPHISM; GENETIC RISK; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; HETEROZYGOTE; HUMAN; HYPERTRIGLYCERIDEMIA; MAJOR CLINICAL STUDY; POPULATION GENETICS; POPULATION RISK; PRIORITY JOURNAL; RANDOMIZATION; RISK ASSESSMENT; SINGLE NUCLEOTIDE POLYMORPHISM;

COHORT STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; HETEROZYGOTE; HUMANS; HYPERTRIGLYCERIDEMIA; LIPOPROTEIN LIPASE; POLYMORPHISM, SINGLE NUCLEOTIDE; PREVALENCE; QUEBEC; RISK ASSESSMENT; RISK FACTORS;

EID: 33646472760     PISSN: 0006291X     EISSN: 10902104     Source Type: Journal    
DOI: 10.1016/j.bbrc.2006.03.187     Document Type: Article

References (43)

1. Davignon J., and Cohn J.S. Triglycerides: a risk factor for coronary heart disease. Atherosclerosis 124 Suppl. (1996) S57-S64
2. Castelli W.P. Epidemiology of triglycerides: a view from Framingham. Am. J. Cardiol. 70 (1992) 3H-9H
3. Hokanson J.E., and Austin M.A. Plasma triglyceride level is a risk factor for cardiovascular disease independent of high-density lipoprotein cholesterol level: a meta-analysis of population-based prospective studies. J. Cardiovasc. Risk 3 (1996) 213-219
4. Pérusse L., Rice T., Després J.P., Bergeron J., Province M.A., Gagnon J., Leon A.S., Rao D.C., Skinner J.S., Wilmore J.H., and Bouchard C. Familial resemblance of plasma lipids, lipoproteins and postheparin lipoprotein and hepatic lipases in the HERITAGE Family Study. Arterioscler. Thromb. Vasc. Biol. 17 (1997) 3263-3269
5. Murthy V., Julien P., and Gagné C. Molecular pathobiology of the human lipoprotein lipase gene. Pharmacol. Ther. 70 (1996) 101-135
6. Julien P., Gagné C., Murthy M.R.V., Cantin B., Cadelis F., Moorjani S., and Lupien P. Mutations of the lipoprotein lipase gene as a cause of dyslipidemias in the Québec population. Can. J. Cardiol. 10 (1994) 54B-60B
7. Mailly F., Tugrul Y., Reymer P.W., Bruin T., Seed M., Groenemeyer B.F., Asplund-Carlson A., Vallance D., Winder A.F., Miller G.J., et al. A common variant in the gene for lipoprotein lipase (Asp9 → Asn). Functional implications and prevalence in normal and hyperlipidemic subjects. Arterioscler. Thromb. Vasc. Biol. 15 (1995) 468-478
8. Fisher R.M., Humphries S.E., and Talmud P.J. Common variation in the lipoprotein lipase gene: effects on plasma lipids and risk of atherosclerosis. Atherosclerosis 135 (1997) 145-159
9. Bergeron J., Normand T., Bharucha A., Ven Murthy M.R., Julien P., Gagne C., Dionne C., De Braekeleer M., Brun D., Hayden M.R., et al. Prevalence, geographical distribution and genealogical investigations of mutation 188 of lipoprotein lipase gene in the French Canadian population of Quebec. Clin. Genet. 41 (1992) 206-210
10. Dionne C., Gagne C., Julien P., Murthy M.R., Roederer G., Davignon J., Lambert M., Chitayat D., Ma R., Henderson H., et al. Genealogy and regional distribution of lipoprotein lipase deficiency in French-Canadians of Quebec. Hum. Biol. 65 (1993) 29-39
11. Normand T., Bergeron J., Fernandez-Margallo T., Bharucha A., Ven Murthy M.R., Julien P., Gagné C., Dionne C., De Braekeleer M., Ma R., Hayden M.R., and Lupien P.J. Geographic distribution and genealogy of mutation 207 of the lipoprotein lipase gene in the French Canadian population of Quebec. Hum. Genet. 89 (1992) 671-675
12. Berger J., and Moller D.E. The mechanisms of action of PPARs. Annu. Rev. Med. 53 (2002) 409-435
13. Vohl M.C., Lepage P., Gaudet D., Brewer C.G., Bétard C., Perron P., Houde G., Cellier C., Faith J.M., Després J.P., Morgan K., and Hudson T.J. Molecular scanning of the human PPARa gene: association of the L162v mutation with hyperapobetalipoproteinemia. J. Lipid Res. 41 (2000) 945-952
14. Brisson D., Ledoux K., Bosse Y., St-Pierre J., Julien P., Perron P., Hudson T.J., Vohl M.C., and Gaudet D. Effect of apolipoprotein E, peroxisome proliferator-activated receptor alpha and lipoprotein lipase gene mutations on the ability of fenofibrate to improve lipid profiles and reach clinical guideline targets among hypertriglyceridemic patients. Pharmacogenetics 12 (2002) 313-320
15. Robitaille J., Després J.P., Pérusse L., and Vohl M.C. The PPAR-gamma P12A polymorphism modulates the relationship between dietary fat intake and components of the metabolic syndrome: results from the Quebec Family Study. Clin. Genet. 63 (2003) 109-116
16. Karpe F. Postprandial lipoprotein metabolism and atherosclerosis. J. Intern. Med. 246 (1999) 341-355
17. Bohnet K., Pillot T., Visvikis S., Sabolovic N., and Siest G. Apolipoprotein (apo) E genotype and apoE concentration determine binding of normal very low density lipoproteins to HepG2 cell surface receptors. J. Lipid Res. 37 (1996) 1316-1324
18. Dallongeville J., Lussier-Cacan S., and Davignon J. Modulation of plasma triglyceride levels by apoE phenotype: a meta-analysis. J. Lipid Res. 33 (1992) 447-454
19. Liu Q., Thorland E.C., Heit J.A., and Sommer S.S. Overlapping PCR for bidirectional PCR amplification of specific alleles: a rapid one-tube method for simultaneously differentiating homozygotes and heterozygotes. Genome Res. 7 (1997) 389-398
20. Garenc C., Aubert S., Laroche J., Girouard J., Vohl M.C., Bergeron J., Rousseau F., and Julien P. Population prevalence of APOE, APOC3 and PPAR-alpha mutations associated to hypertriglyceridemia in French Canadians. J. Hum. Genet. 49 (2004) 691-700
21. Garenc C., Pérusse L., Gagnon J., Chagnon Y.C., Bergeron J., Després J.P., Province M.A., Leon A.S., Skinner J.S., Wilmore J.H., Rao D.C., and Bouchard C. Linkage and association studies of the lipoprotein lipase gene with postheparin plasma lipase activities, body fat, and plasma lipid and lipoprotein concentrations: the HERITAGE Family Study. Metabolism 49 (2000) 432-439
22. Ma Y., Henderson H.E., Murthy V., Roederer G., Monsalve M.V., Clarke L.A., Normand T., Julien P., Gagné C., Lambert M., Davignon J., Lupien P.J., Brunzell J., and Hayden M.R. A mutation in the human lipoprotein lipase gene as the most common cause of familial chylomicronemia in French Canadians. N. Engl. J. Med. 324 (1991) 1761-1766
23. Robitaille N., Cormier G., Couture R., Bouthillier D., Davignon J., and Pérusse L. Apolipoprotein E polymorphism in a French Canadian population of northeastern Quebec: allele frequencies and effects on blood lipid and lipoprotein levels. Hum. Biol. 68 (1996) 357-370
24. Robitaille J., Brouillette C., Houde A., Lemieux S., Pérusse L., Tchernof A., Gaudet D., and Vohl M.C. Association between the PPARalpha-L162V polymorphism and components of the metabolic syndrome. J. Hum. Genet. 49 (2004) 482-489
25. Nielsen E.M., Hansen L., Echwald S.M., Drivsholm T., Borch-Johnsen K., Ekstrom C.T., Hansen T., and Pedersen O. Evidence for an association between the Leu162Val polymorphism of the PPARalpha gene and decreased fasting serum triglyceride levels in glucose tolerant subjects. Pharmacogenetics 13 (2003) 417-423
26. Al-Shali K.Z., House A.A., Hanley A.J., Khan H.M., Harris S.B., Zinman B., Mamakeesick M., Fenster A., Spence J.D., and Hegele R.A. Genetic variation in PPARG encoding peroxisome proliferator-activated receptor gamma associated with carotid atherosclerosis. Stroke 35 (2004) 2036-2040
27. Hokanson J.E. Functional variants in the lipoprotein lipase gene and risk cardiovascular disease. Curr. Opin. Lipidol. 10 (1999) 393-399
28. Wittrup H.H., Tybjaerg-Hansen A., and Nordestgaard B.G. Lipoprotein lipase mutations, plasma lipids and lipoproteins, and risk of ischemic heart disease: a meta-analysis. Circulation 99 (1999) 2901-2907
29. Waalen J., Nordestgaard B.G., and Beutler E. The penetrance of hereditary hemochromatosis. Best Pract. Res. Clin. Haematol. 18 (2005) 203-220
30. Wittrup H.H., Tybjaerg-Hansen A., Abildgaard S., Steffensen R., Schnohr P., and Nordestgaard B.G. A common substitution (Asn291Ser) in lipoprotein lipase is associated with increased risk of ischemic heart disease. J. Clin. Invest. 99 (1997) 1606-1613
31. Fisher K.L., FitzGerald G.A., and Lawn R.M. Two polymorphisms in the human lipoprotein lipase (LPL) gene. Nucleic Acids Res. 15 (1987) 7657
32. Wittrup H.H., Tybjaerg-Hansen A., Steffensen R., Deeb S.S., Brunzell J.D., Jensen G., and Nordestgaard B.G. Mutations in the lipoprotein lipase gene associated with ischemic heart disease in men. The Copenhagen city heart study. Arterioscler. Thromb. Vasc. Biol. 19 (1999) 1535-1540
33. Zhang H., Henderson H., Gagne S.E., Clee S.M., Miao L., Liu G., and Hayden M.R. Common sequence variants of lipoprotein lipase: standardized studies of in vitro expression and catalytic function. Biochim. Biophys. Acta 1302 (1996) 159-166
34. Hokanson J.E. Lipoprotein lipase gene variants and risk of coronary disease: a quantitative analysis of population-based studies. Int. J. Clin. Lab. Res. 27 (1997) 24-34
35. Gagné S.E., Larson M.G., Pimstone S.N., Schaefer E.J., Kastelein J.J., Wilson P.W., Ordovas J.M., and Hayden M.R. A common truncation variant of lipoprotein lipase (Ser447X) confers protection against coronary heart disease: the Framingham Offspring Study. Clin. Genet. 55 (1999) 450-454
36. Nierman M.C., Prinsen B.H., Rip J., Veldman R.J., Kuivenhoven J.A., Kastelein J.J., de Sain-van der Velden M.G., and Stroes E.S. Enhanced conversion of triglyceride-rich lipoproteins and increased low-density lipoprotein removal in LPLS447X carriers. Arterioscler. Thromb. Vasc. Biol. 25 (2005) 2410-2415
37. Nierman M.C., Rip J., Kuivenhoven J.A., van Raalte D.H., Hutten B.A., Sakai N., Kastelein J.J., and Stroes E.S. Carriers of the frequent lipoprotein lipase S447X variant exhibit enhanced postprandial apoprotein B-48 clearance. Metabolism 54 (2005) 1499-1503
38. Ross C.J., Liu G., Kuivenhoven J.A., Twisk J., Rip J., van Dop W., Excoffon K.J., Lewis S.M., Kastelein J.J., and Hayden M.R. Complete rescue of lipoprotein lipase-deficient mice by somatic gene transfer of the naturally occurring LPLS447X beneficial mutation. Arterioscler. Thromb. Vasc. Biol. 25 (2005) 2143-2150
39. Rader D.J. Gain-of-function mutations and therapeutic implications: lipoprotein lipase S447X to the rescue. Arterioscler. Thromb. Vasc. Biol. 25 (2005) 2018-2019
40. Garenc C., Couillard C., Laflamme N., Cadelis F., Gagne C., Couture P., Julien P., and Bergeron J. Effect of the APOC3 Sst I SNP on fasting triglyceride levels in men heterozygous for the LPL P207L deficiency. Eur. J. Hum. Genet. 13 (2005) 1159-1165
41. Bossé Y., Pascot A., Dumont M., Brochu M., Prud'homme D., Bergeron J., Després J.P., and Vohl M.C. Influences of the PPAR alpha-L162V polymorphism on plasma HDL(2)-cholesterol response of abdominally obese men treated with gemfibrozil. Genet. Med. 4 (2002) 311-315
42. Hagberg J.M., Wilund K.R., and Ferrell R.E. APO E gene and gene-environment effects on plasma lipoprotein-lipid levels. Physiol. Genomics 4 (2000) 101-108
43. Gaudet D., Vohl M.C., Julien P., Tremblay G., Perron P., Gagné C., Bergeron J., Moorjani S., and Després J.P. Relative contribution of low-density lipoprotein receptor and lipoprotein lipase gene mutations to angiographically assessed coronary artery disease among French Canadians. Am. J. Cardiol. 82 (1998) 299-305