Relative contribution of variation within the APOC3/A4/A5 gene cluster in determining plasma triglycerides

Human Molecular Genetics

Volumn 11, Issue 24, 2002, Pages 3039-3046

  Talmud, Philippa J ^a   Hawe, Emma ^a   Martin, Steve ^a   Olivier, Michael ^b   Miller, George J ^c   Rubin, Edward M ^d   Pennacchio, Len A ^d   Humphries, Steve E ^a  

^a KING'S COLLEGE LONDON   (United Kingdom)

^b MEDICAL COLLEGE OF WISCONSIN   (United States)

^c QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^d LAWRENCE BERKELEY NATIONAL LABORATORY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

APOLIPOPROTEIN A; APOLIPOPROTEIN A4; APOLIPOPROTEIN A5; APOLIPOPROTEIN C3; CYTOSINE; GLUTAMINE; HISTIDINE; SERINE; THREONINE; THYMINE; TRIACYLGLYCEROL; TRYPTOPHAN; UNCLASSIFIED DRUG; APOA5 PROTEIN, HUMAN; APOLIPOPROTEIN; APOLIPOPROTEIN A-IV; APOLIPOPROTEIN C;

ADULT; ALLELE; ARTICLE; CONTROLLED STUDY; GENE CLUSTER; GENE LINKAGE DISEQUILIBRIUM; GENETIC ANALYSIS; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HOMOZYGOTE; HUMAN; HUMAN EXPERIMENT; MALE; NORMAL HUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; TRIACYLGLYCEROL BLOOD LEVEL; BLOOD; GENETICS; MIDDLE AGED;

APOLIPOPROTEIN C-III; APOLIPOPROTEINS; APOLIPOPROTEINS A; APOLIPOPROTEINS C; HAPLOTYPES; HUMANS; LINKAGE DISEQUILIBRIUM; MALE; MIDDLE AGED; TRIGLYCERIDES; VARIATION (GENETICS);

EID: 0037112882     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/11.24.3039     Document Type: Article

References (35)

1. Hokanson, J.E. and Austin, M.A. (1996) 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, 213-219.
2. Pennacchio, L.A., Olivier, M., Hubacek, J.A., Cohen, J.C., Cox, D.R., Fruchart, J.C., Krauss, R.M. and Rubin, E.M. (2001) An apolipoprotein influencing triglycerides in humans and mice revealed by comparative sequencing. Science, 294, 169-173.
3. Groenendijk, M., Cantor, R.M., de Bruin, T.W. and Dallinga-Thie, G.M. (2001) The apoAI-CIII-AIV gene cluster. Atherosclerosis, 157, 1-11.
4. Shoulders, C.C., Harry, P.J., Lagrost, L., White, S.E., Shah, N.F., North, J.D., Gilligan, M., Gambert, P. and Ball, M.J. (1991) Variation at the apo AI/CIII/AIV gene complex is associated with elevated plasma levels of apo CIII. Atherosclerosis, 87, 239-247.
5. Bainton, D., Miller, N.E., Bolton, C.H., Yarnell, J.W, Sweetnam, P.M., Baker, I.A., Lewis, B. and Elwood, P.C. (1992) Plasma triglyceride and high density lipoprotein cholesterol as predictors of ischaemic heart disease in British men: the Caerphilly and Speedwell Collaborative Heart Disease Studies. Br. Heart J., 68, 60-66.
6. Maeda, N., Li, H., Lee, D., Oliver, P., Quarfordt, S.H. and Osada, J. (1994) Targeted disruption of the apolipoprotein C-III gene in mice results in hypotriglyceridaemia and protection from postprandial hypertriglyceridaenia. J. Biol. Chem., 269, 23610-23616.
7. Aalto Setala, K., Fisher, E.A., Chen, X., Chajek Shaul, T., Hayek, T., Zechner, R., Walsh, A., Ramakrishnan, R., Ginsberg, H.N. and Breslow, J.L. (1992) Mechanism of hypertriglyceridemia in human apolipoprotein (apo) CIII transgenic mice. Diminished very low density lipoprotein fractional catabolic rate associated with increased apo CIII and reduced apo E on the particles. J. Clin. Invest., 90, 1889-1900.
8. Shachter, N.S., Hayek, T., Leff, T., Smith, J.D., Rosenberg, D.W, Walsh, A., Ramakrishnan, R., Goldberg, I.J., Ginsberg, H.N. and Breslow, J.L. (1994) Overexpression of apolipoprotein CII causes hypertriglyceridemia in transgenic mice. J. Clin. Invest., 93, 1683-1690.
9. Steinmetz, A. and Utermann, G. (1985) Activation of lecithin cholesterol acyltransferase by human apolipoprotein A-IV. J. Biol. Chem., 260, 2258-2264.
10. Weinberg, R.B. (2002) Apolipoprotein A-IV polymorphisms and diet-gene interactions. Curr. Opin. Lipidol., 13, 125-134.
11. Tso, P., Chen, Q., Fujimoto, K., Fukagawa, K. and Sakata, T. (1995) Apolipoprotein A-IV: a circulating satiety signal produced by the small intestine. Obes. Res., 3(Suppl. 5), 689S-695S.
12. Surguchov, A.P., Page, G.P., Smith, L., Patsch, W. and Boerwinkle, E. (1996) Polymorphic markers in apolipoprotein C-III gene flanking regions and hypertriglyceridemia. Arterioscler. Thromb. Vasc. Biol., 16, 941-947.
13. Waterworth, D.M., Ribalta, J., Nicaud, V., Dallongeville, J., Humphries, S.E. and Talmud, P. (1999) ApoCIII gene variants modulate postprandial response to both glucose and fat tolerance tests. Circulation, 99, 1872-1877.
14. Waterworth, D.M., Talmud, P.J., Bujac, S.R., Fisher, R.M., Miller, G.J. and Humphries, S.E. (2000) The contribution of apoCIII gene variants to the determination of triglyceride levels and interaction with smoking in middle-aged men. Arterioscler. Thromb. Vasc. Biol., 20, 2663-2669.
15. Waterworth, D.M., Talmud, P.J., Humphries, S.E., Wicks, P.D., Sagnella, G.A., Strazullo, P., Alberti, K.G.M.M., Cook, D.G. and Cappuchio, F.P. (2001) Variable effecrs of the apoCIII C - 482T variant on insulin, glucose and triglyceride levels in different ehtnic groups: Gender-BMI-Genotype interaction. Diabetalogia, 44, 245-248.
16. Peacock, R.E., Hamsten, A., Johansson, J., Nilsson Ehle, P. and Humphries, S.E. (1994) Associations of genotypes at the apolipoprotein AI-CIII-AIV, apolipoprotein B and lipoprotein lipase gene loci with coronary atherosclerosis and high density lipoprotein subclasses. Clin. Genet., 46, 273-282.
17. Ordovas, J.M., Civeira, F., Genest, J., Jr., Craig, S., Robbins, A.H., Meade, T., Pocovi, M., Frossard, P.M., Masharani, U., Wilson, P.W. et al. (1991) Restriction fragment length polymorphisms of the apolipoprotein A-I, C-III, A-IV gene locus. Relationships with lipids, apolipoproteins, and premature coronary artery disease. Atherosclerosis, 87, 75-86.
18. Der Vliet, H.N., Sammels, M.G., Leegwater, A.C., Levels, J.H., Reitsma, P.H., Boers, W. and Chamuleau, R.A. (2001) Apolipoprotein A-V. A novel apolipoprotein associated with an early phase of liver regeneration. J. Biol. Chem., 276, 44512-44520.
19. Pennacchio, L.A., Olivier, M., Hubacek, J.A., Krauss, R.M., Rubin, E.M. and Cohen, J.C. (2002) Two independent apolipoprotein A5 haplotypes influence human plasma triglyceride levels. Hum. Mol. Genet., 11, 3031-3038.
20. Daly, M.J., Rioux, J.D., Schaffner, S.F., Hudson, T.J. and Lander, E.S. (2001) High-resolution haplotype structure in the human genome. Nat. Genet., 29, 229-232.
21. Jeffreys, A.J., Kauppi, L. and Neumann, R. (2001) Intensely punctate meiotic recombination in the class II region of the major histocompatibility complex. Nat. Genet., 29, 217-222.
22. Li, W.W., Dammerman, M.M., Smith, J.D., Metzger, S., Breslow, J.L. and Leff, T. (1995) Common genetic variation in the promoter of the human apo CIII gene abolishes regulation by insulin and may contribute to hypertriglyceridemia. J. Clin. Invest., 96, 2601-2605.
23. Benhizia, F., Ginsberg, H.N., Humphries, S.E. and Talmud, P.J. (2001) Variation in the human ApoB signal peptide modulates ApoB17 translocation. Biochem. Biophys. Res. Commun., 283, 149-157.
24. Humphries, S.E. and Talmud, P.J. (1995) Hyperlipidaemia associated with genetic variation in the apolipoprotein B gene. Curr. Opin. Lipidol., 6, 215-222.
25. Miller, G.J., Bauer, K.A., Barzegar, S., Cooper, J.A. and Rosenberg, R.D. (1996) Increased activation of the haemostatic system in men at high risk of fatal coronary heart disease. Thromb. Haemost., 75, 767-771.
26. Humphries, S.E., Talmud, P.J., Hawe, E., Bolla, M., Day, I.N. and Miller, G.J. (2001) Apolipoprotein E4 and coronary heart disease in middle-aged men who smoke: a prospective study. Lancet, 358, 115-119.
27. Nanjee, M.N., Cooke, C.J., Wong, J.S., Hamilton, R.L., Olszewski, W.L. and Miller, N.E. (2001) Composition and ultrastructure of size subclasses of normal human peripheral lymph lipoproteins. Quantification of cholesterol uptake by hdl in tissue fluids. J. Lipid Res., 42, 639-648.
28. Day, I.N., Humphries, S.E., Richards, S., Norton, D. and Reid, M. (1995) High-throughput genotyping using horizontal polyacrylamide gels with wells arranged for microplate array diagonal gel electrophoresis (MADGE). Biotechniques, 19, 830-835.
29. Fisher, R.M., Burke, H., Nicaud, V., Ehnholm, C. and Humphries, S.E. on behalf of the EARS Group. (1999) Effect of variation in the apo A-IV gene on body mass index and fasting and postprandial lipids in the European Atherosclerosis Research Study II. J. Lipid Res., 40, 287-294.
30. Nei, M. (1987) In Molecular Evolutionary Genetics. Columbia University Press, New York.
31. Tiret, L., Amouyel, P., Rakotovao, R., Cambien, F. and Ducimetiere, P. (1991) Testing for association between disease and linked marker loci: a log- linear-model analysis. Am. J. Hum. Genet., 48, 926-934.
32. Stephens, M., Smith, N.J. and Donnelly, P. (2001) A new statistical method for haplotype reconstruction from population data. Am. J. Hum. Genet., 68, 978-989.
33. Rothman, K.J. (1990) No adjustments are needed for multiple comparisons. Epidemiology, 1, 43-46.
34. Perneger, T.V. (1998) What's wrong with Bonferroni adjustments. Br. Med. J., 316, 1236-1238.
35. Perneger, T.V. (1999) Adjusting for multiple testing in studies is less important than other concerns. Br. Med. J., 318, 1288.