A common Hpa I RFLP of apolipoprotein C-I increases gene transcription and exhibits an ethnically distinct pattern of linkage disequilibrium with the alleles of apolipoprotein E

Journal of Lipid Research

Volumn 40, Issue 1, 1999, Pages 50-58

  Xu, Yan ^a   Berglund, Lars ^a   Ramakrishnan, Rajasekhar ^b   Mayeux, Richard ^b   Ngai, Colleen ^a   Holleran, Steven ^b   Tycko, Benjamin ^b   Leff, Todd ^c,d   Shachter, Neil S ^a  

^a Taub Institute for Research on Alzheimer's Disease and the Aging Brain and the Gertrude H Sergievsky Center   (United States)

^b Coll Phys Surgs of Columbia Univ ^*  (United States)

^c UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^d PFIZER INC   (United States)

Author keywords

Apolipoproteins B; Apolipoproteins C; Apolipoproteins E; Biochemical genetics; Genotype; VLDL

Indexed keywords

APOLIPOPROTEIN B; APOLIPOPROTEIN C1; APOLIPOPROTEIN E; LIPOPROTEIN; NUCLEAR PROTEIN; TRANSCRIPTION FACTOR; TRIACYLGLYCEROL; VERY LOW DENSITY LIPOPROTEIN;

ARTICLE; ETHNOLOGY; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENE OVEREXPRESSION; GENETIC POLYMORPHISM; GENETIC TRANSCRIPTION; GENOTYPE; HOMOZYGOTE; HUMAN; HUMAN CELL; LIPOPROTEIN BLOOD LEVEL; LIPOPROTEIN METABOLISM; LIVER CLEARANCE; MOLECULAR GENETICS; NEGRO; NORMAL HUMAN; PRIORITY JOURNAL;

EID: 0032941603     PISSN: 00222275     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (27)

1. Windler, E., Y. Chao, and R. J. Havel. 1980. Regulation of the hepatic uptake of triglyceride-rich lipoproteins in the rat. Opposing effects of homologous apolipoprotein E and individual C apolipoproteins. J. Biol. Chem. 255: 8303-8307.
2. Quarfordt, S. H., G. Michalopoulos, and B. Schirmer. 1982. The effect of human C apolipoproteins on the in vitro hepatic metabolism of triglyceride emulsions in the rat. J. Biol. Chem. 257: 14642-14647.
3. Kowal, R. C., J. Herz, K. H. Weisgraber, R. W. Mahley, M. S. Brown, and J. L. Goldstein. 1990. Opposing effects of apolipoprotein E and C on lipoprotein binding to low density lipoprotein receptor-related protein. J. Biol. Chem. 265: 10771-10779.
4. Weisgraber, K. H., R. W. Mahley, R. C. Kowal, J. Herz, J. L. Goldstein, and M. S. Brown. 1990. Apolipoprotein C-I modulates the interaction of apolipoprotein E with β-migrating very low density lipoproteins (β-VLDL) and inhibits binding of β-VLDL to low density lipoprotein receptor-related protein. J. Biol. Chem. 265: 22453-22459.
5. Windler, E. E., P. T. Kovanen, Y. S. Chao, M. S. Brown, R. J. Havel, and J. L. Goldstein. 1980. The estradiol-stimulated lipoprotein receptor of rat liver. A binding site that membrane mediates the uptake of rat lipoproteins containing apoproteins B and E. J. Biol. Chem. 255: 10464-10471.
6. Sehayek, E., and S. Eisenberg. 1991. Mechanisms of inhibition by apolipoprotein C of apolipoprotien E-dependent cellular metabolism of human triglyceride-rich lipoproteins through the low density lipoprotein receptor pathway. J. Biol. Chem. 266: 18259-18267.
7. Simonet, W. S., N. Bucay, R. E. Pitas, S. J. Lauer, and J. M. Taylor. 1991. Multiple tissue-specific elements control the apolipoprotein E/C-I gene locus in transgenic mice. J. Biol. Chem. 266: 8651-8654.
8. Shachter, N. S., Y. Zhu, A. Walsh, J. L. Breslow, and J. D. Smith. 1993. Localization of a liver-specific enhancer in the apolipoprotein E/C-I/C-II gene locus. J. Lipid Res. 34: 1699-1708.
9. Shachter, N. S., T. Ebara, R. Ramakrishnan, G. Steiner, J. L. Breslow, H. N. Ginsberg, and J. D. Smith. 1996. Combined hyperlipidemia in transgenic mice overexpressing human apolipoprotein C-I. J. Clin. Invest. 98: 846-855.
10. Jong, M. C., V. E. H. Dahlmans, P. J. J. van Gorp, K. Willems van Dyk, M. L. Breuer, M. H. Hofker, and L. M. Havekes. 1996. In the absence of the low density lipoprotein receptor, human apolipoprotein C-I overexpression in transgenic mice inhibits the hepatic uptake of very low density lipoproteins via a receptor-associated protein-sensitive pathway. J Clin. Invest. 98: 2259-2267.
11. Smit, M., E. v. d. Kooijs-Meis, L. P. Woudt, L. M. Havekes, and R. R. Frants. 1988. Exact localization of the familial dysbetalipoproteinemia associated Hpa I restriction site in the promoter region of the APOCI gene. Biochem. Biophys. Res. Commun. 152: 1282-1288.
12. Klasen, E. C., P. J. Talmud, L. Havekes, E. de Wit, E. van der Kooij-Meijs, M. Smit, G. Hansson, and S. E. Humphries. 1987. A common restriction fragment length polymorphism of the human apolipoprotein E gene and its relationship to type III hyperlipidemia. Hum. Genet. 75: 244-247.
13. Smit, M., E. van der Kooij-Meijs, J. A. Gevers Leuven, A. F. H. Stalenhoef, L. M. Havekes, and R. R. Frants. 1989. DNA polymorphisms in the APOE-C1-C2 gene cluster and the APOB gene in relation to familial dysbetalipoproteinemia. In Genetic Aspects of Familial Dysbetalipoproteinemia. M. Smit. Doctoral Thesis. State University of Leiden, Leiden, The Netherlands. 87-105
14. Tang, M-X., G. Maestre, W-Y. Tsai, X-H. Liu, L. Feng, W-Y. Chung, M. Chun, P. Schofield, Y. Stern, B. Tycko, and R. Mayeux. 1996. Relative risk of Alzheimer's disease and age-at-onset based on APOE genotypes among elderly African-Americans, Caucasians and Hispanics in New York City. Am. J. Hum. Genet. 58: 554-574.
15. Hixson, J. E., and D. T. Vernier 1990. Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with Hha I. J. Lipid Res. 31: 545-548.
16. Lauer, S. J., D. Walker, N. A. Elshourbagy, C. A. Reardon, B. Levy-Wilson, and J. M. Taylor. 1988. Two copies of the human apolipoprotein C-I gene are linked closely to the apolipoprotein E gene. J. Biol. Chem. 263: 7277-7286.
17. Dignam, J. D., P. L. Martin, B. S. Shastry, and R. G. Roeder 1983. Eukaryotic gene transcription with purified components. Methods Enzymol. 101: 582-598.
18. Leff, T., K. Reue, A. Melian, H. Culver, and J. L. Breslow 1989. A regulatory element in the apoC-III promoter that directs hepatic specific transcription binds to proteins in expressing and nonexpressing cell types. J. Biol. Chem. 264: 16132-16137.
19. Heckert, L. L, K. Schultz, and J. H. Nilson. 1995. Different composite regulatory elements direct expression of the human α subunit gene to pituitary and placenta. J. Biol. Chem. 270: 26497-26504.
20. Sing, C. F., and J. Davignon. 1985. Role of apolipoprotein E polymorphism in determining normal plasma lipid and lipoprotein variation. Am. J. Hum. Genet. 37: 268-285.
21. Robertson, F. W., and A. M. Cumming. 1985. Efforts of apoprotein E polymorphism on serum lipoprotein concentration. Arteriosclerosis. 5: 283-292.
22. Ehnholm, C., M. Lukka, T. Kuusi, E. A. Nikkilä, and G. Utermann. 1986. Apolipoprotein E polymorphism in the Finnish population: gene frequencies and relation to lipoprotein concentrations. J. Lipid Res. 27: 227-235.
23. Lenzen, H. J., G. Assmann, R. Buchwalsky, and H. Schulte. 1986. Association of apolipoprotein E polymorphism, low density lipoprotein cholesterol, and coronary artery disease. Clin. Chem. 325: 778-781.
24. Huang, Y., S. W. Schwendner, S. C. Rall, Jr., and R. W. Mahley. 1996. Hypolipidemic and hyperlipidemic phenotypes in transgenic mice expressing human apolipoprotein E. J. Biol. Chem. 271: 29146-29151.
25. Weisgraber, K. H., T. L. Innerarity, and R. W. Mahley. 1982. Abnormal lipoprotein receptor-binding activity of the human E apoprotein due to cysteine-arginine interchange at a single site. J. Biol. Chem. 257: 2518-2521.
26. Gregg, R. E., L. A. Zech, E. J. Schaefer, D. Stark, D. Wilson, and H. B. Brewer, Jr. 1986. Abnormal in vivo metabolism of apolipoprotein E4 in humans. J. Clin. Invest. 78: 815-821.
27. Tang, M. X., G. Maestre, W. Y. Tsai, X. H. Liu, L. Feng, W. Y. Chung, M. Chun, P. Schofield, Y. Stern, B. Tycko, and R. Mayeux. 1996. Effect of age, ethnicity, and head injury on the association between APOE genotypes and Alzheimer's disease. Ann. NY Acad. Sci. 802: 6-15.