Common genomic variation in the APOC3 promoter associated with variation in plasma lipoproteins

Arteriosclerosis, Thrombosis, and Vascular Biology

Volumn 17, Issue 11, 1997, Pages 2753-2758

  Hegele, Robert A ^a,d   Connelly, Philip W ^a   Hanley, Anthony J G ^b   Sun, Fang ^a   Harris, Stewart B ^c   Zinman, Bernard ^b  

^a ST MICHAEL'S HOSPITAL   (Canada)

^b MOUNT SINAI HOSPITAL   (Canada)

^c UNIVERSITY OF WESTERN ONTARIO   (Canada)

^d ROBARTS RESEARCH INSTITUTE   (Canada)

Author keywords

Gene promoter; Hyperlipidemia; Insulin response element; Linkage disequilibrium; Polygenic traits

Indexed keywords

APOLIPOPROTEIN B; APOLIPOPROTEIN C3; APOLIPOPROTEIN E; ARYLESTERASE; BINDING PROTEIN; FATTY ACID; LIPOPROTEIN; TRIACYLGLYCEROL;

ADULT; ARTICLE; CANADA; FEMALE; GENE LINKAGE DISEQUILIBRIUM; GENETIC VARIABILITY; HOMOZYGOTE; HUMAN; HYPERLIPIDEMIA; LIPOPROTEIN BLOOD LEVEL; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; PROMOTER REGION; TRIACYLGLYCEROL BLOOD LEVEL;

EID: 0031442548     PISSN: 10795642     EISSN: None     Source Type: Journal    
DOI: 10.1161/01.ATV.17.11.2753     Document Type: Article

References (16)

1. Breslow JL. Genetic basis of lipoprotein disorders. J Clin Invest. 1989;84:373-380.
2. Mehrabian M, Lusis AJ. Genetic markers for atherosclerosis and related risk factors. In: Molecular Genetics of Coronary Artery Disease: Candidate Genes and Processes in Atherosclerosis. Lusis AJ, Rotter JI, Sparkes RS, eds. Basel, Switzerland: Karger; 1992: 363-418.
3. Rees A, Stocks J, Sharpe CR, Vella MA, Shoulders CC, Katz J, Jowett NI, Barelle FE, Galton DJ. Deoxyribonucleic acid polymorphism in the apolipoprotein A-I-C-III gene cluster: association with hypertriglyceridemia. J Clin Invest. 1985;76:1090-1095.
4. Tas S. Strong association of a single nucleotide substitution in the 3′-untranslated region of the apolipoprotein-C-III gene with common hypertriglyceridemia in Arabs. Clin Chem. 1989;35: 256-259.
5. Zeng O, Dammerman M, Takada Y, Matsunaga A, Breslow JL, Sasaki J. An apolipoprotein CIII marker associated with hypertriglyceridemia in Caucasians also confers increased risk in a west Japanese population. Hum Hered. 1994;95:371-375.
6. Ito Y, Azrolan N, O'Connell A, Walsh A, Breslow JL. Hypertriglyceridemia as a result of human apolipoprotein CIII gene expression in transgenic mice. Science. 1990;249:790-793.
7. 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 U S A. 1993;90:4562-4566.
8. Li WW, Dammerman MM, Smith JD, Metzger J, Breslow JL, Leff T. Common genetic variation in the promoter of the human apo CIII gene abolishes regulation by insulin and may contribute to hypertriglyceridemia. J Clin Invest. 1995;96:2601-2605.
9. Sing CF, Davignon J. Role of apolipoprotein E polymorphism in determining normal plasma lipid and lipoprotein variation. Am J Hum Genet. 1985;37:268-285.
10. Gerdes LU, Klausen IC, Sihm I, Faegerman O. Apolipoprotein E polymorphism in a Danish population compared to findings in 45 other study populations around the world. Genet Epidemiol. 1992;9:155-167.
11. Baier LJ, Sacchettini JC, Knowler WC, Eads J, Paolisso G, Tataranni PA, Mochizuki H, Bennett PH, Bogardus C, Prochazka M. An amino acid substitution in the human intestinal fatty acid binding protein is associated with increased fatty acid binding, increased fat oxidation, and insulin resistance. J Clin Invest. 1995; 95:1281-1287.
12. Mitchell BD, Kammerer CM, O'Connell P, Harrison CR, Manire M, Shipman P, Moyer MP, Stern MP, Frazier ML. Evidence for linkage of postchallenge insulin levels with intestinal fatty acid binding protein (FABP2) in Mexican-Americans. Diabetes. 1995;44: 1046-1053.
13. Humbert R, Adler DA, Disteche CM, Hassett C, Omiecinski CJ, Furlong CE. The molecular basis of the human serum plasma paraoxonase activity polymorphism. Nat Genet. 1993;3:73-76.
14. Hegele RA, Brunt JH, Connelly PW. A polymorphism of the paraoxonase gene associated with variation in blood pressure in a genetic isolate. Arterioscler Thromb Vasc Biol. 1995;15:89-95.
15. Ruiz J, Blanche H, James RW, Blatter Garin M-C, Vaisse C, Charpentier G, Cohen N, Morabia A, Passa P, Froguel P. Gln-Arg192 polymorphism of paraoxonase and coronary heart disease in type 2 diabetes. Lancet. 1995;346:869-872.
16. Serrato M, Marrian AJ. A variant of the human paraoxonase/ arylesterase (HUMPONA) gene is a risk factor for coronary artery disease. J Clin Invest. 1995;96:3005-3008.