APOE/C1/C4/C2 gene cluster genotypes, haplotypes and lipid levels in prospective coronary heart disease risk among UK healthy men

Molecular Medicine

Volumn 16, Issue 9-10, 2010, Pages 389-399

  Ken Dror, Gie ^a   Talmud, Philippa J ^a   Humphries, Steve E ^a   Drenos, Fotios ^a  

^a ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

APOLIPOPROTEIN; APOLIPOPROTEIN A1; APOLIPOPROTEIN B; APOLIPOPROTEIN C1; APOLIPOPROTEIN C2; APOLIPOPROTEIN C4; APOLIPOPROTEIN E; APOLIPOPROTEIN E2; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LIPID; LOW DENSITY LIPOPROTEIN CHOLESTEROL; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CARDIOVASCULAR RISK; CONTROLLED STUDY; GENE CLUSTER; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENOTYPE; HAPLOTYPE; HETEROZYGOTE; HUMAN; ISCHEMIC HEART DISEASE; LIPID BLOOD LEVEL; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; RISK ASSESSMENT; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM;

APOLIPOPROTEIN C-I; APOLIPOPROTEIN C-II; APOLIPOPROTEINS; APOLIPOPROTEINS C; APOLIPOPROTEINS E; CORONARY DISEASE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GREAT BRITAIN; HAPLOTYPES; HEALTH; HUMANS; LINKAGE DISEQUILIBRIUM; MALE; MIDDLE AGED; MULTIGENE FAMILY; POLYMORPHISM, SINGLE NUCLEOTIDE; PROPORTIONAL HAZARDS MODELS; PROSPECTIVE STUDIES; REGRESSION ANALYSIS; RISK FACTORS;

EID: 77956640356     PISSN: 10761551     EISSN: None     Source Type: Journal    
DOI: 10.2119/molmed.2010.00044     Document Type: Article

References (51)

1. Austin MA, Hokanson JE, Edwards KL. (1998) Hypertriglyceridemia as a cardiovascular risk factor. Am. J. Cardiol. 81:7B-12B.
2. Castelli WP, Anderson K, Wilson PW, Levy D. (1992) Lipids and risk of coronary heart disease. The Framingham Study. Ann. Epidemiol. 2:23-28.
3. Brunzell JD, Sniderman AD, Albers JJ, Kwiterovich PO Jr. (1984) Apoproteins B and A-I and coronary artery disease in humans. Arteriosclerosis. 4:79-83.
4. Lusis AJ. (2000) Atherosclerosis. Nature. 407:233-41.
5. Sing CF, Stengard JH, Kardia SL. (2003) Genes, environment, and cardiovascular disease. Arterioscler. Thromb. Vasc. Biol. 23:1190-6.
6. Lusis AJ, Mar R, Pajukanta P. (2004) Genetics of atherosclerosis. Annu. Rev. Genomics Hum. Genet. 5:189-218.
7. Beekman M, et al. (2002) Heritabilities of apolipo - protein and lipid levels in three countries. Twin Res. 5:87-97.
8. Ehnholm C, Lukka M, Kuusi T, Nikkila E, Utermann G. (1986) Apolipoprotein E polymorphism in the Finnish population: gene frequencies and relation to lipoprotein concentrations. J. Lipid Res. 27:227-35.
9. Dallongeville J, Lussier-Cacan S, Davignon J. (1992) Modulation of plasma triglyceride levels by apoE phenotype: a meta-analysis. J. Lipid Res. 33:447-54.
10. Strittmatter WJ, Bova Hill C. (2002) Molecular biology of apolipoprotein E. Curr. Opin. Lipidol. 13:119-123.
11. Eichner JE, et al. (2002) Apolipoprotein E polymorphism and cardiovascular disease: a HuGE review. Am. J. Epidemiol. 155:487-95.
12. Boerwinkle E, et al. (1987) The use of measured genotype information in the analysis of quantitative phenotypes in man. II. The role of the apolipoprotein E polymorphism in determining levels, variability, and covariability of cholesterol, betalipoprotein, and triglycerides in a sample of unrelated individuals. Am. J. Med. Genet. 27:567-82.
13. Siest G, et al. (1995) Apolipoprotein E: an important gene and protein to follow in laboratory medicine. Clin. Chem. 41:1068-86.
14. Bennet AM, et al. (2007) Association of apolipoprotein E genotypes with lipid levels and coronary risk. JAMA. 298:1300-11.
15. Jong MC, Hofker MH, Havekes LM. (1999) Role of ApoCs in lipoprotein metabolism: functional differences between ApoC1, ApoC2, and ApoC3. Arterioscler. Thromb. Vasc. Biol. 19:472-84.
16. Weisgraber KH, et al. (1990) Apolipoprotein C-I modulates the interaction of apolipoprotein E with beta-migrating very low density lipoproteins (beta-VLDL) and inhibits binding of beta- VLDL to low density lipoprotein receptor-related protein. J. Biol. Chem. 265:22453-9.
17. Sehayek E, Eisenberg S. (1991) Mechanisms of inhibition by apolipoprotein C of apolipoprotein Edependent cellular metabolism of human triglyceride- rich lipoproteins through the low density lipoprotein receptor pathway. J. Biol. Chem. 266:18259-67.
18. Pentikainen MO, Oksjoki R, Oorni K, Kovanen PT. (2002) Lipoprotein lipase in the arterial wall: linking LDL to the arterial extracellular matrix and much more. Arterioscler. Thromb. Vasc. Biol. 22:211-7.
19. Breckenridge WC, Little JA, Steiner G, Chow A, Poapst M. (1978) Hypertriglyceridemia associated with deficiency of apolipoprotein C-II. N. Engl. J. Med. 298:1265-73.
20. Shen Y, Lookene A, Nilsson S, Olivecrona G. (2002) Functional analyses of human apolipoprotein CII by site-directed mutagenesis: identification of residues important for activation of lipoprotein lipase. J. Biol. Chem. 277:4334-42.
21. Allan CM, Taylor S, Taylor JM. (1997) Two hepatic enhancers, HCR.1 and HCR.2, coordinate the liver expression of the entire human apolipoprotein E/C-I/C-IV/C-II gene cluster. J. Biol. Chem. 272:29113-9.
22. Kotite L, Zhang LH, Yu Z, Burlingame AL, Havel RJ. (2003) Human apoC-IV: isolation, characterization, and immunochemical quantification in plasma and plasma lipoproteins. J. Lipid Res. 44:1387-94.
23. Kamboh MI, Aston CE, Hamman RF. (2000) DNA sequence variation in human apolipoprotein C4 gene and its effect on plasma lipid profile. Atherosclerosis. 152:193-201.
24. Cooper JA, et al. (2000) Comparison of novel hemostatic factors and conventional risk factors for prediction of coronary heart disease. Circulation 102:2816-2822.
25. Miller GJ, et al. (1995) The effects of quality and timing of venepuncture on markers of blood coagulation in healthy middle-aged men. Thromb. Haemost. 73:82-6.
26. Miller GJ, Bauer KA, Barzegar S, Cooper JA, Rosenberg RD. (1996) Increased activation of the haemostatic system in men at high risk of fatal coronary heart disease. Thromb. Haemost. 75:767-71.
27. World Health Organization Regional Office for Europe. (1976) Myocardial Infarction Community Register. Copenhagen: World Health Organization. Public Health in Europe 5.
28. Drenos F, et al. (2009) Integrated associations of genotypes with multiple blood biomarkers linked to coronary heart disease risk. Hum. Mol. Genet. 18:2305-16.
29. de Bakker PI, et al. (2005) Efficiency and power in genetic association studies. Nat. Genet. 37:1217-23.
30. Bolla MK, Haddad L, Humphries SE, Winder AF, Day IN. (1995) High-throughput method for determination of apolipoprotein E genotypes with use of restriction digestion analysis by microplate array diagonal gel electrophoresis. Clin. Chem. 41:1599-604.
31. Day IN, Humphries SE. (1994) Electrophoresis for genotyping: microtiter array diagonal gel electrophoresis on horizontal polyacrylamide gels, hydrolink, or agarose. Anal. Biochem. 222:389-95.
32. Stephens M, Scheet P. (2005) Accounting for decay of linkage disequilibrium in haplotype inference and missing-data imputation. Am. J. Hum. Genet. 76:449-62.
33. Stephens M, Smith NJ, Donnelly P. (2001) A new statistical method for haplotype reconstruction from population data. Am. J. Hum. Genet. 68:978-89.
34. Graham RR, et al. (2001) Genetic linkage and transmission disequilibrium of marker haplotypes at chromosome 1q41 in human systemic lupus erythematosus. Arthritis Res 3:299-305.
35. Marchini J, et al. (2006) A comparison of phasing algorithms for trios and unrelated individuals. Am. J. Hum. Genet. 78:437-50.
36. Rothman KJ. (1990) No adjustments are needed for multiple comparisons. Epidemiology 1:43-6.
37. Eichenbaum-Voline S, et al. (2004) Linkage and association between distinct variants of the APOA1/C3/A4/A5 gene cluster and familial combined hyperlipidemia. Arterioscler. Thromb. Vasc. Biol. 24:167-74.
38. Lai CQ, et al. (2004) Influence of the APOA5 locus on plasma triglyceride, lipoprotein subclasses, and CVD risk in the Framingham Heart Study. J. Lipid Res. 45:2096-105.
39. Talmud PJ, et al. (2009) Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. Am. J. Hum. Genet. 85:628-42.
40. Isaacs A, et al. (2007) Heritabilities, apolipoprotein E, and effects of inbreeding on plasma lipids in a genetically isolated population: the Erasmus Rucphen Family Study. Eur. J. Epidemiol. 22:99-105.
41. Klos K, et al. (2008) APOE/C1/C4/C2 hepatic control region polymorphism influences plasma apoE and LDL cholesterol levels. Hum. Mol. Genet. 17:2039-46.
42. North KE, et al. (2006) Linkage analysis of LDL cholesterol in American Indian populations: the Strong Heart Family Study. J. Lipid Res. 47:59-66.
43. Willer CJ, et al. (2008) Newly identified loci that influence lipid concentrations and risk of coronary artery disease. Nat. Genet. 40:161-9.
44. Curtiss LK. (2000) ApoE in atherosclerosis: A protein with multiple hats. Arterioscler. Thromb. Vasc. Biol. 20:1852-3.
45. Artiga MJ, et al. (1998) Allelic polymorphisms in the transcriptional regulatory region of apolipoprotein E gene. FEBS Lett. 421:105-8.
46. Lambert JC, et al. (1998) A new polymorphism in the APOE promoter associated with risk of developing Alzheimer's disease. Hum. Mol. Genet. 7:533-40.
47. Lambert JC, et al. (2000) Independent association of an APOE gene promoter polymorphism with increased risk of myocardial infarction and decreased APOE plasma concentrations-the ECTIM study. Hum. Mol. Genet. 9:57-61.
48. Moreno JA, et al. (2003) The influence of the apolipoprotein E gene promoter (-219G/ T) polymorphism on postprandial lipoprotein metabolism in young normolipemic males. J. Lipid Res. 44:2059-64.
49. Moreno JA, et al. (2005) The apolipoprotein E gene promoter (-219G/T) polymorphism determines insulin sensitivity in response to dietary fat in healthy young adults. J. Nutr. 135:2535-40.
50. Viitanen L, et al. (2001) Apolipoprotein E gene promoter (-219G/T) polymorphism is associated with premature coronary heart disease. J. Mol. Med. 79:732-7.
51. Chen XH, et al. (2004) Evidence of admixture from haplotyping in an epidemiological study of UK Caucasian males: implications for association analyses. Hum. Hered. 57:142-55.