Influence of genetic variation at the apo A-I gene locus on lipid levels and response to diet in familial hypercholesterolemia

Atherosclerosis

Volumn 139, Issue 1, 1998, Pages 107-113

  Carmena Ramon, Rafael F ^a   Ordovas, Jose M ^b   Ascaso, Juan F ^a   Jose Real, ^a   Priego, Maria A ^a   Carmena, Rafael ^a  

^a HOSPITAL CLÍNICO UNIVERSITARIO   (Spain)

^b TUFTS UNIVERSITY   (United States)

Author keywords

Apolipoprotein AI; Diet; Familial hypercholesterolemia; Genetic variation

Indexed keywords

APOLIPOPROTEIN A1; APOLIPOPROTEIN B; CHOLESTEROL; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN CHOLESTEROL; TRIACYLGLYCEROL; VERY LOW DENSITY LIPOPROTEIN CHOLESTEROL;

ADULT; ARTICLE; FAMILIAL DISEASE; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; GENE LOCUS; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE; HUMAN; HYPERCHOLESTEROLEMIA; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL;

ADULT; ALLELES; APOLIPOPROTEIN A-I; CHOLESTEROL, HDL; CHOLESTEROL, LDL; CHOLESTEROL, VLDL; DIET; FEMALE; GENOTYPE; HETEROZYGOTE; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; LIPIDS; MALE; POLYMORPHISM, GENETIC; VARIATION (GENETICS);

EID: 0032127742     PISSN: 00219150     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0021-9150(98)00064-1     Document Type: Article

References (38)

1. Fielding C.J., Shore V.G., Fielding P.E. A protein co-factor of lecithin: cholesterol acyltransferase. Biochem Biophys Res Commun. 46:1972;1493-1498.
2. Reichl D., Miller N.E. Pathophysiology of reverse cholesterol transport: Insights from inherited disorders of lipoprotein metabolism. Arteriosclerosis. 9:1989;785-797.
3. Karathanasis S.K. Apolipoprotein multigene family: tandem organization of human apolipoprotein A-I, C-III and A-IV genes. Proc Natl Acad Sci USA. 82:1985;6374-6378.
4. Wile D.B., Barbir M., Gallagher J., Myant N.B., Ritchie C.D., Thompson G.R., Humphries S.E. Apolipoprotein A-I gene polymorphism: frequency in patients with coronary artery disease and healthy controls and association with serum apo A-I and HDL-cholesterol concentration. Atherosclerosis. 78:1989;9-18.
5. Ordovas J.M., Civeira F., Genest J.G., Craig S., Robbins A.H., Meade T., Pocovi M., Frossard P.M., Masharani U., Wilson P.W.F., Salem D.N., Ward R.H., Schaefer E.J. Restriction fragment length polymorphisms of the apolipoprotein A-I, C-III, A-IV gene locus: relationships with lipids, apolioproteins, and premature coronary artery disease. Atherosclerosis. 87:1991;75-86.
6. Assmann G., von Eckardstein A., Funke H. High density lipoproteins, reverse transport of cholesterol and coronary artery disease. Insights from mutations. Circulation. 87:1993;III28-34.
7. Vega G.L., Grundy S.M. Hypoalphalipoproteinemia as a risk factor for coronary heart disease. Curr Opin Lipidol. 7:1996;209-216.
8. Pagani F., Sidoli A., Giudici G.A., Bathengi L., Vergani C., Baralle F.E. Human apolipoprotein A-I gene promoter polymorphism: association with hyperalphalipoproteinemia. J Lipid Res. 31:1990;1371-1377.
9. Jeenah M., Kessling A., Miller N., Humphries S.E. G to A substitution in the promoter region of the apolipoprotein A gene is associated with elevated serum apolipoprotein A-I and high density lipoprotein cholesterol concentrations. Mol Biol Med. 7:1990;233-241.
10. Sigurdsson G. Jr., Gudnason V., Sigurdson G., Humphries S.E. Interaction between a polymorphism of the apo A-I promoter region and smoking determines plasma level of HDL and apo A-I. Arterioscler Thromb. 12:1992;1017-1022.
11. Paul-Hayase H., Rosseneu M., Robinson D., Van Bervliet J.P., Deslypere J.P., Humphries S.E. Polymorphisms in the apolipoprotein (apo) AI-CIII-AIV gene cluster: detection of genetic variation determining plasma apoAI, apoCIII and apoAIV concentrations. Hum Genet. 88:1992;439-446.
12. Pagani F., Giudici G.A., Baralle F.E., Vergani C. Association of a polymorphism in the apo A-I gene promoter with hyperalphalipoproteinemia. Eur J Epidemiol. 8(Suppl 1):1992;54-58.
13. Civeira F., Pocovi M., Cenarro A., Garces C., Ordovas J.M. Adenine for guanine substitution -78 base pairs 5′ to the apolipoprotein (APO) A-I gene. Relation with high density lipoprotein cholesterol and apo A-I concentrations. Clin Genet. 44:1993;307-312.
14. Barre D.E., Guerra R., Verstraete R., Wang Z., Grundy S.M., Cohen J.C. Genetic analysis of a polymorphism in the human apolipoprotein A-I gene promoter: effect on plasma HDL-cholesterol levels. J Lipid Res. 35:1994;1292-1296.
15. Minnich A., DeLangavant G., Lavigne J., Roederer G., Lussier-Cacan S., Davignon J. G→A substitution at position -75 of the apolipoprotein A-I gene promoter. Evidence against a direct effect on HDL cholesterol levels. Arterioscler Thromb Vasc Biol. 15:1995;1740-1745.
16. Smith J.D., Brinton E.A., Breslow J.L. Polymorphism in the human apolipoprotein A-I gene promoter region. Association of the minor allele with decreased production rate in vivo and promoter activity in vitro. J Clin Invest. 89:1992;1796-1800.
17. Wang X.L., Badenhop K., Humphrey K., Wilcken D.E.L. C to T and G to A transitions are responsible for loss of a MspI restriction site in the 5′-region of the human apolipoprotein AI gene. Hum Genet. 95:1995;473-475.
18. Wang X.L., Badenhop R., Humphrey K.E., Wilcken D.E.L. New MspI polymorphism at the +83 bp of the human apolipoprotein AI gene: association with increased circulating high density lipoprotein. Genet Epidem. 13:1996;1-10.
19. Wang X.L., Liu S.-X., McCredie R.M., Wilcken D.E.L. Polymorphisms at the 5′-end of the apolipoprotein AI gene and severity of coronary artery disease. J Clin Invest. 98:1996;372-377.
20. Abbey M. The influence of apolipoprotein polymorphism on the response to dietary fat and cholesterol. Curr Opin Lipidol. 3:1992;12-16.
21. Ordovas J.M., Lopez-Miranda J., Mata P., Perez-Jimenez F., Lichtenstein A.H., Schaefer E.J. Gene-diet interaction in determining plasma lipid response to dietary intervention. Atherosclerosis. 118(Suppl):1995;S11-S27.
22. Dreon D.M., Krauss R.M. Diet-gene interactions in human lipoprotein metabolism. J Am Coll Nutr. 4:1997;313-324.
23. Davignon J, Roy M, Dufour R, Roederer G. Familial hypercholesterolemia. In: Steiner G, Shafrir E editors. Primary Hyperlipoproteinemias. New York: McGraw-Hill, 1991; 201-234.
24. Lopez-Miranda J., Ordovas J.M., Espino A., Marin C., Salas J., Lopez-Segura F., Jimenez-Pereperez J., Perez-Jimenez F. Influence of mutation in human apolipoprotein A-I gene promoter on plasma LDL cholesterol response to dietary fat. Lancet. 343:1994;1246-1249.
25. Meng Q.H., Pajukanta P., Valsta L., Aro A., Pietinen P., Tikkanen M.J. Influence of apolipoprotein A-I promoter polymorphism on lipid levels and response to dietary change in Finnish adults. J Intern Med. 214:1997;373-378.
26. Xu C.-F., Angelico F., DelBen M., Humphries S.E. Role of genetic variation at the apo AI-CIII-AIV gene cluster in determining plasma apoAI levels in boys and girls. Genet Epidemiol. 10:1993;113-122.
27. Chaves F.J., Puig O., Garcia-Sogo M., Real J., Gil J.V., Ascaso J.F., Carmena R., Armengod M.E. Seven DNA polymorphisms in the LDL receptor gene: application to the study of familial hypercholesterolemia in Spain. Clin Genet. 50:1996;28-35.
28. Friedewald W.T., Levy R.I., Fredrickson D.S. Estimation of the concentration of low-density lipoprotein cholesterol in plasma without use of preparative ultracentrifugue. Clin Chem. 18:1972;499-502.
29. Katan M.B., Beynen A.C., de Vries J.H., Nobels A. Existence of consistent hypo- and hyperresponders to dietary cholesterol in man. Am J Epidemiol. 123:1986;221-234.
30. Jacobs D.R., Anderson J.T., Hannan P., Keys A., Blackburn H. Variability in individual serum cholesterol response to change in diet. Arteriosclerosis. 3:1983;349-356.
31. Beynen A.C., Katan M.B. Reproducibility of the variations between humans in the response of serum cholesterol to cessation of egg consumption. Atherosclerosis. 57:1985;19-31.
32. Angotti E., Mele E., Costanzo F., Avvedimento E.V. A polymorphism (G→A transition) in the -78 position of the apolipoprotein A-I promoter increases transcription efficiency. J Biol Chem. 269:1994;17371-17374.
33. Tuteja R., Tuteja N., Melo C., Casari G., Baralle F.E. Transcription efficiency of human apolipoprotein A-I promoter varies with naturally occurring A to G transition. FEBS Lett. 304:1992;98-101.
34. Von Eckardstein A., Funke H., Schulte M., Erren M., Schulte H., Assmann G. Nonsynonymous polymorphic sites in the apolipoprotein (apo) A-IV gene are associated with changes in the concentration of apo B- and apo A-I-containing lipoproteins in a normal population. Am J Hum Genet. 50:1992;1115-1128.
35. Mata P., Ordovas J.M., Lopez-Miranda J., Lichtenstein A.H., Clevidence B., Judd J.T., Schaefer E.J. Apolipoprotein A-IV phenotype affects diet induced plasma low density lipoprotein cholesterol lowering. Arteriosclerosis Thrombosis. 14:1994;884-891.
36. McCombs R.J., Marcadis D.E., Ellis J., Weinberg R.B. Attenuated hypercholesterolemic response to a high-cholesterol diet in subjects heterozygous for the apolipoprotein A-IV-2 allele. New Engl J Med. 331:1994;706-710.
37. Tybjærg-Hansen A., Nordestgaard B.G., Gerdes L.U., Færgeman O., Humphries S.E. Genetic markers in the apo AI-CIII-AIV gene cluster for combined hyperlipidemia, hypertriglyceridemia, and predisposition to atherosclerosis. Atherosclerosis. 100:1993;157-169.
38. Wojclechowski A.P., Farral M., Cullen P.et al. Familial combined hyperlipidemia linked to the apolipoprotein AI-CIII-AIV gene cluster on chromosome 11q23-q24. Nature. 349:1991;161-164.