A functional polymorphism in the apolipoprotein B promoter that influences the level of plasma low density lipoprotein

Journal of Lipid Research

Volumn 40, Issue 9, 1999, Pages 1686-1694

  Van 'T Hooft, Ferdinand M ^a   Jormsjö, Sofia ^a   Lundahl, Björn ^a   Tornvall, Per ^a   Eriksson, Per ^a   Hamsten, Anders ^a  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

Cholesterol; Coronary heart disease; DNA; Lipoproteins; Restriction fragment length polymorphism

Indexed keywords

APOLIPOPROTEIN B; LOW DENSITY LIPOPROTEIN;

ARTICLE; CARDIOVASCULAR RISK; CONTROLLED STUDY; DNA POLYMORPHISM; GENE FREQUENCY; GENE SEQUENCE; GENETIC TRANSFECTION; HUMAN; ISCHEMIC HEART DISEASE; LIPOPROTEIN BLOOD LEVEL; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; TRANSCRIPTION REGULATION;

EID: 0032823407     PISSN: 00222275     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (56)

1. Dixon, J., and H. N. Ginsberg. 1993. Regulation of hepatic secretion of apolipoprotein B-containing lipoproteins: information obtained from cultured liver cells. J. Lipid Res. 34: 167-179.
2. Innerarity, T. L., J. Borén, S. Yamanaka, and S-O. Olofsson. 1996. Biosynthesis of apolipoprotein B48-containing lipoproteins. Regulation by novel post-transcriptional mechanisms. J. Biol. Chem. 271: 2353-2356.
3. Blackhart, B. D., E. M. Ludwig, V. R. Pierotti, L. Caiati, M. A. Onasch, S. C. Wallis, L. Powell, R. Pease, T. J. Knott, M. L. Chu, R. W. Mahley, J. Scott, B. J. McCarthy, and B. Levy-Wilson. 1986. Structure of the human apolipoprotein B gene. J. Biol. Chem. 261: 15364-15367.
4. Kane, J. P. 1983. Apolipoprotein B: structural and metabolic heterogeneity. Annu. Rev. Physiol. 45: 637-650.
5. Powell, L. M., S. C. Wallis, R. J. Pease, Y. H. Edwards, T. J. Knott, and J. Scott. 1987. A novel form of tissue-specific RNA processing produces apolipoprotein-B48 in intestine. Cell. 50: 831-840.
6. Chen, S-H., G. Habib, C-Y. Yang, Z-W. Gu, B. R. Lee, S-A. Weng, S. R. Silberman, S-J. Cai, J. P. Deslypere, M. Rosseneu, A. M. Gotto, Jr., W-H. Li, and L. Chan. 1987. Apolipoprotein B-48 is the product of a messenger RNA with an organ-specific in-frame stop codon. Science. 238: 363-366.
7. Hamsten, A., L. Iselius, G. Dahlén, and U. de Faire. 1986. Genetic and cultural inheritance of serum lipids, low and high density lipoprotein cholesterol and serum apolipoproteins A-I, A-II and B. Atherosclerosis. 60: 199-208.
8. Hobbs, H. H., M. S. Brown, and J. L. Goldstein. 1992. Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. Hum. Mutat. 1: 445-466.
9. Ludwig, E. H., P. N. Hopkins, A. Allen, L. L. Wu, R. R. Williams, J. L. Anderson, R. H. Ward, J-M. Lalouel, and T. L. Innerarity. 1997. Association of genetic variations in apolipoprotein B with hypercholesterolemia, coronary disease, and receptor binding of low density lipoproteins. J. Lipid Res. 38: 1361-1373.
10. Venkatesan, S., P. Cullen, P. Pacy, D. Halliday, and J. Scott. 1993. Stable isotopes show a direct relationship between VLDL apoB overproduction and serum triglyceride levels and indicate a metabolically and biochemically coherent basis for familial combined hyperlipidemia. Arterioscler. Thromb. 13: 1110-1118.
11. Yao, Z., and R. S. McLeod. 1994. Synthesis and secretion of hepatic apolipoprotein B-containing lipoproteins. Biochim. Biophys. Acta. 1212: 152-166.
12. Borén, J., A. White, M. Wettesten, J. Scott, L. Graham, and S-O. Olofsson. 1991. The molecular mechanism for the assembly and secretion of apoB100-containing lipoproteins. Prog. Lipid Res. 30: 205-218.
13. Pullinger, C. R., J. D. North, B-B. Teng, V. A. Rifici, A. E. R. De Brito, and J. Scott. 1989. The apolipoprotein B gene is constitutively expressed in HepG2 cells: regulation of secretion by oleic acid, albumin, and insulin, and measurement of the mRNA half-life. J. Lipid Res. 30: 1065-1077.
14. Dashti, N., D. L. Williams, and P. Alaupovic. 1989. Effects of oleate and insulin on the production rates and cellular mRNA concentra-tions of apolipoproteins in HepG2 cells. J. Lipid Res. 30: 1365-1372.
15. Moberly, J. B., T. G. Cole, D. H. Alpers, and G. Schonfeld. 1990. Oleic acid stimulation of apolipoprotein B secretion from HepG2 and Caco-2 cells occurs post-transcriptionally. Biochim. Biophys. Acta. 1042: 70-80.
16. Dashti, N. The effect of low density lipoproteins, cholesterol, and 25-hydroxycholesterol on apolipoprotein B gene expression in HepG2 cells. J. Biol. Chem. 267: 7060-7169.
17. Zhang, Z., A. D. Sniderman, D. Kalant, H. Vu, J. C. Monge, Y. Tao, and K. Cianflone. 1993. The role of amino acids in apoB100 synthesis and catabolism in human HepG2 cells. J. Biol. Chem. 268: 26920-26926.
18. Wu, X., N. Sakata, J. Dixon, and H. N. Ginsberg. 1994. Exogenous VLDL stimulates apolipoprotein B secretion from HepG2 cells by both pre- and post-translational mechanisms. J. Lipid Res. 35: 1200-1210.
19. Selby, S. L., and Z. Yao. 1995. Level of apolipoprotein B mRNA has an important effect on the synthesis and secretion of apolipoprotein B-containing lipoprotein. Studies on transfected hepatoma cell lines expressing recombinant human apolipoprotein B. Arterioscler. Thromb. Vasc. Biol. 15: 1900-1910.
20. Linton, M. F., R. V. Farese, Jr., G. Chiesa, D. S. Grass, P. Chin, R. E. Hammer, H. H. Hobbs, and S. G. Young. 1993. Transgenic mice expressing high plasma concentrations of human apolipoprotein B100 and lipoprotein (a). J. Clin. Invest. 92: 3029-3037.
21. Callow, M. J., L. J. Stoltzfus, R. M. Lawn, and E. M. Rubin. 1994. Expression of human apolipoprotein B and assembly of lipoprotein(a) in transgenic mice. Proc. Natl. Acad. Sci. USA. 91: 2130-2134.
22. Fan, J., S. P. A. McCormick, R. M. Krauss, S. Taylor, R. Quan, J. M. Taylor, and S. G. Young. 1995. Overexpression of human apolipoprotein B-100 in transgenic rabbits results in increased levels of LDL and decreased levels of HDL. Arterioscler. Thromb. Vasc. Biol. 15: 1889-1899.
23. McCormick, S. P. A., J. K. Ng, M. Véniant, J. Borén, V. Pierotti, L. M. Flynn, D. S. Grass, A. Connolly, and S. G. Young. 1996. Transgenic mice that overexpress mouse apolipoprotein B. Evidence that the DNA sequences controlling intestinal expression of the apolipoprotein B gene are distant from the structural gene. J. Biol. Chem. 271: 11963-11970.
24. Hegele, R. A., L-S. Huang, P. N. Herbert, C. B. Blum, J. E. Buring, C. H. Hennekens, and J. L. Breslow. 1986. Apolipoprotein B-gene DNA polymorphisms associated with myocardial infarction. N. Engl. J. Med. 315: 1509-1515.
25. Law, A., L. M. Powell, H. Brunt, T. J. Knott, D. G. Altman, J. Rajput, S. C. Wallis, R. J. Pease, L. M. Priestley, and J. Scott. 1986. Common DNA polymorphism within the coding sequence of apolipoprotein B gene associated with altered lipids. Lancet. 1: 1301-1303.
26. Talmud, P. J., N. Barni, A. M. Kessling, P. Carlsson, C. Darnfors, G. Bjursell, D. Galton, V. Wynn, H. Kirk, and M. R. Hayden. 1987. Apolipoprotein B gene variants are involved in the determination of serum cholesterol levels: a study of normo- and hyperlipidaemic individuals. Atherosclerosis. 67: 81-89.
27. Aalto-Setälä, K., M. Tikkanen, M-R. Taskinen, M. Nieminen, P. Holmberg, and K. Kontula. 1988. Xbal and c/g polymorphisms of the apolipoprotein B gene locus are associated with serum cholesterol and LDL-cholesterol levels in Finland. Atherosclerosis. 74: 47-54.
28. Monsalve, M. V., R. Young, J. Jobsis, S. A. Wiseman, S. Dhamu, J. T. Powell, R. M. Greenhalgh, and S. E. Humphries. 1988. DNA polymorphisms of the gene for apolipoprotein B in patients with periferal arterial disease. Atherosclerosis. 70: 123-129.
29. Myant, N. B., J. Gallagher, M. Barbir, G. R. Thompson, D. Wile, and S. E. Humphries. 1989. Restriction fragment length polymorphisms in the apoB gene in relation to coronary artery disease. Atherosclerosis. 77: 193-201.
30. Paulweber, B., W. Friedl, F. Krempler, S. E. Humphries, and F. Sandhofer. 1990. Association of DNA polymorphism at the apolipoprotein B gene locus with coronary heart disease and serum very low density lipoprotein levels. Arteriosclerosis. 10: 17-24.
31. Peacock, R., A. Dunning, A. Hamsten, P. Tornvall, S. Humphries, and P. Talmud. 1992. Apolipoprotein B gene polymorphisms, lipoproteins and coronary atherosclerosis: a study of young myocardial survivors and healthy population-based individuals. Atherosclerosis. 92: 151-164.
32. Hixson, J. E., C. A. McMahan, H. C. McGill, Jr., J. P. Strong, and PDAY Reseach Group. 1992. ApoB insertion/deletion polymorphisms are associated with atherosclerosis in young black but not young white males. Arterioscler. Thromb. 12: 1023-1029.
33. Visvikis, S., J. P. Cambou, D. Arveiler, A. E. Evans, H. J. Para, D. Aguillon, J. C. Fruchart, G. Siest, and F. Cambien. 1993. Apolipoprotein B signal peptide polymorphism in patients with myocardial infarction and controls. Hum. Genet. 90: 561-565.
34. Bohn, M., A. Bakken, J. Erikssen, and K. Berg. 1994. The apolipoprotein B signal peptide insertion/deletion polymorphism is not associated with myocardial infarction in Norway. Clin. Genet. 45: 255-259.
35. Tornvall, P., P. Båvenholm, C. Landou, U. de Faire, and A. Hamsten. 1993. Relationship of plasma levels and composition of apolipoprotein B-containing lipoproteins to angiographically-defined coronary artery disease in young patients with myocardial infarction. Circulation. 88: 2180-2189.
36. Sambrook, J., E. F. Fritsch, and T. Maniatis. 1989. Molecular Cloning: A Laboratory Manual. Cold Spring Harbor Laboratory Press, Plainview, NY.
37. Miller, S. A., D. D. Dykes, and H. F. Polesky. 1988. A simple salting-out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 16: 1215.
38. Van den Maagdenberg, A. M. J. M., P. De Knijff, A. F. H. Stalenhoef, J. A. Gevers Leuven, L. M. Havekes, and R. R. Frants. 1989. Apolipoprotein E*3-Leiden allele results from a partial gene duplication in exon 4. Biochem. Biophys. Res. Commun. 165: 851-857.
39. Lew, D. J., T. Decker, I. Strehlow, and J. E. Darnell. 1991. Overlapping elements in the guanylate-binding protein gene promoter mediate transcriptional induction by alpha and gamma interferons. Mol. Cell. Biol. 11: 182-191.
40. Alksnis, M., T. Barkhem, P-E. Strömstedt, H. Ahola, E. Kutoh, J-Å. Gustafsson, L. Poellinger, S. and Nilsson. 1991. High level expression of functional full length and truncated glucocorticoid receptor in Chinese hamster ovary cells. J. Biol. Chem. 266: 10078-10085.
41. Kalb, V. F., and R. W. Bernlohr. 1977. A new spectrophotometric assay for protein in cell extracts. Anal. Biochem. 82: 362-371.
42. Dawson, S. J., B. Wiman, A. Hamsten, F. Green, S. Humphries, and A. M. Henney. 1993. The two allele sequences of a common polymorphism in the promoter of the plasminogen activator inhibitor-1 (PAI-1) gene respond differently to interleukin-1 in HepG2 cells. J. Biol. Chem. 268: 10739-10745.
43. Ludwig, E. H., B. D. Blackhart, V. R. Pierotti, L. Caiati, C. Fortia, T. Knott, J. Scott, R. W. Mahley, B. Levy-Wilson, and B. J. McCarthy. 1987. DNA sequence of the human apolipoprotein B gene. DNA. 6: 363-372.
44. Paulweber, B., M. A. Onasch, B. P. Nagy, and B. Levy-Wilson. 1991. Similarities and differences in the function of regulatory elements at the 5′ end of the human apolipoprotein B gene in cultured hepatoma (HepG2) and colon carcinoma (CaCo-2) cells. J. Biol. Chem. 266: 24149-24160.
45. Davignon, J., R. E. Gregg, and C. F. Sing. 1988. Apolipoprotein E polymorphism and atherosclerosis. Arteriosclerosis. 8: 1-21.
46. Boerwinkle, E., and L. Chan. 1989. A three codon insertion/deletion polymorphism in the signal peptide region of the human apolipoprotein B (APOB) gene directly typed by the polymerase chain reaction. Nucleic Acids Res. 17: 4003.
47. Visvikis, S., L. Chan, G. Siest, P. Drouin, and E. Boerwinkle. 1990. An insertion/deletion polymorphism in the signal peptide of the human apolipoprotein B gene. Hum. Genet. 84: 373-375.
48. Sturley, S. L., P. J. Talmud, R. Brasseur, M. R. Culbertson, S. E. Humphries, and A. D. Attie. 1994. Human apolipoprotein B signal sequence variants confer a secretion-defective phenotype when expressed in yeast. J. Biol. Chem. 269: 21670-21675.
49. Das, H. K., T. Leff, and J. L. Breslow. 1988. Cell type-specific expression of the human apoB gene is controlled by two cis-acting regulatory regions. J. Biol. Chem. 263: 11452-11458.
50. Carlsson, P., and G. Bjursell. 1989. Negative and positive promotor elements contribute to tissue specificity of apolipoprotein B expression, Gene. 77: 113-121.
51. Kardassis, D., M. Hadzopoulou-Cladaras, D. P. Ramji, R. Cortese, V. I. Zannis, and C. Cladaras. 1990. Characterization of the promotor elements required for hepatic and intestinal transcription of the human apoB gene: definition of the DNA-binding site of a tissue-specific transcriptional factor. Mol. Cell. Biol. 10: 2653-2659.
52. Brooks, A. R., B. D. Blackhart, K. Haubold, and B. Levy-Wilson. 1991. Characterization of tissue-specific enhancer elements in the second intron of the human apolipoprotein B gene. J. Biol. Chem. 266; 7848-7859.
53. Paulweber, B., A. R. Brooks, B. P. Nagy, and B. Levy-Wilson. 1991. Identification of a negative regulatory region 5′ of the human apolipoprotein B promoter. J. Biol. Chem. 266: 21956-21961.
54. Kardassis, D., V. I. Zannis, and C. Cladaras. 1992. Organization of the regulatory elements and nuclear activities participating in the transcription of the human apolipoprotein B gene. J. Biol. Chem. 267: 2622-2632.
55. Metzger, S., T. Leff, and J. L. Breslow. 1990. Nuclear factors AF-1 and C/EBP bind to the human apoB gene promoter and modulate its transcriptional activity in hepatic cells. J. Biol. Chem. 265: 9978-9983.
56. Ladias, J. A. A., M. Hadzopoulou-Cladaras, D. Kardassis, P. Cardot, J. Chengt, V. Zannis, and C. Cladaras. 1992. Transcriptional regulation of human apolipoprotein genes apoB, apoCIII, and apoAII by members of the steroid hormone receptor superfamily HNF-4, ARP-1, EAR-2, and EAR-3. J. Biol. Chem. 267: 15849-15860.