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Volumn 127, Issue 2, 1996, Pages 273-282

Apo E variants in patients with type III hyperlipoproteinemia

Author keywords

Apo E genotyping; apo E polymorphisms; Apo E(Christchurch); apolipoprotein E; dysbetalipoproteinemia; type III hyperlipoproteinemia

Indexed keywords

APOLIPOPROTEIN E; LIPOPROTEIN RECEPTOR; VERY LOW DENSITY LIPOPROTEIN;

EID: 0030596002     PISSN: 00219150     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0021-9150(96)05969-2     Document Type: Article
Times cited : (46)

References (48)
  • 1
    • 0001225364 scopus 로고
    • Type III hyperlipoproteinemia (dysbetalipoproteinemia): The role of apolipoprotein E in normal and abnormal lipoprotein metabolism
    • Scriver CR, Beaudet AL, Sly WS Valle D. (eds). New York: Mc Graw-Hill
    • [1] Mahley RW, Rall SC. Type III hyperlipoproteinemia (dysbetalipoproteinemia): the role of apolipoprotein E in normal and abnormal lipoprotein metabolism. In: Scriver CR, Beaudet AL, Sly WS Valle D. (eds). The Metabolic Basis of Inherited Disease, 6th edn, New York: Mc Graw-Hill;1989:1195.
    • (1989) The Metabolic Basis of Inherited Disease, 6th Edn , pp. 1195
    • Mahley, R.W.1    Rall, S.C.2
  • 3
    • 0027990682 scopus 로고
    • Secretion-capture role for apolipoprotein E in remnant lipoprotein metabolism involving cell surface heparan sulfate proteoglycans
    • [3] Ji Z-S, Fazio S, Le Y-L, Mahley RW. Secretion-capture role for apolipoprotein E in remnant lipoprotein metabolism involving cell surface heparan sulfate proteoglycans. J Biol Chem 1994;269:2764.
    • (1994) J Biol Chem , vol.269 , pp. 2764
    • Ji, Z.-S.1    Fazio, S.2    Le, Y.-L.3    Mahley, R.W.4
  • 4
    • 0027238910 scopus 로고
    • High-density lipoproteins and reverse cholesterol transport
    • [4] Barter P. High-density lipoproteins and reverse cholesterol transport. Curr Opin Lipidol 1993;4:210.
    • (1993) Curr Opin Lipidol , vol.4 , pp. 210
    • Barter, P.1
  • 5
    • 0025860481 scopus 로고
    • Three-dimensional structure of the LDL receptor-binding domain of human apolipoprotein E
    • [5] Wilson C, Wardell MR, Weisgraber KH, Mahley RW, Agard DA. Three-dimensional structure of the LDL receptor-binding domain of human apolipoprotein E. Science 1991;252:1817.
    • (1991) Science , vol.252 , pp. 1817
    • Wilson, C.1    Wardell, M.R.2    Weisgraber, K.H.3    Mahley, R.W.4    Agard, D.A.5
  • 6
  • 7
    • 0017773790 scopus 로고
    • Polymorphism of apo E and occurrence of dysbetalipoproteinemia in man
    • [7] Utermann G, Hess M, Steinmetz A. Polymorphism of apo E and occurrence of dysbetalipoproteinemia in man. Nature 1977;269:604.
    • (1977) Nature , vol.269 , pp. 604
    • Utermann, G.1    Hess, M.2    Steinmetz, A.3
  • 8
  • 9
    • 0023133252 scopus 로고
    • Apolipoprotein E isoform phenotyping methodology and population frequency with identification of apo E1 and apo E5 isoforms
    • [9] Ordovas JM, Litwack-Klein L, Wilson PWF, Schaefer MM, Schaefer EJ. Apolipoprotein E isoform phenotyping methodology and population frequency with identification of apo E1 and apo E5 isoforms. J Lipid Res 1987;28:371.
    • (1987) J Lipid Res , vol.28 , pp. 371
    • Ordovas, J.M.1    Litwack-Klein, L.2    Wilson, P.W.F.3    Schaefer, M.M.4    Schaefer, E.J.5
  • 10
    • 0028174820 scopus 로고
    • Effects of gender and menopausal status on the association of apolipoprotein E phenotype with plasma lipoprotein levels: Results from the framingham offspring study
    • [10] Schaefer EJ, Lamon-Fava S, Johnson S et al. Effects of gender and menopausal status on the association of apolipoprotein E phenotype with plasma lipoprotein levels: results from the Framingham Offspring Study. Arterioscler Thromb 1994;14:1105.
    • (1994) Arterioscler Thromb , vol.14 , pp. 1105
    • Schaefer, E.J.1    Lamon-Fava, S.2    Johnson, S.3
  • 13
    • 0029664414 scopus 로고    scopus 로고
    • Apolipoprotein E ∈4 association with dementia in a population-based study: The framingham study
    • [13] Myers RH, Schaefer EJ, Wilson PWF et al. Apolipoprotein E ∈4 association with dementia in a population-based study: The Framingham study. Neurology 1996;46:673.
    • (1996) Neurology , vol.46 , pp. 673
    • Myers, R.H.1    Schaefer, E.J.2    Wilson, P.W.F.3
  • 14
    • 0028014581 scopus 로고
    • Apolipoprotein E and B polymorphisms - Longevity factors assessed in nonagenarians
    • [14] Kervinen K, Savolainen MJ, Salokannel J et al. Apolipoprotein E and B polymorphisms - longevity factors assessed in nonagenarians. Atherosclerosis 1994;105:85.
    • (1994) Atherosclerosis , vol.105 , pp. 85
    • Kervinen, K.1    Savolainen, M.J.2    Salokannel, J.3
  • 15
    • 0029059759 scopus 로고
    • Impact of apolipoprotein E genotype variation on means, variances, and correlations of plasma lipid, lipoprotein, and apolipoprotein traits in octogenarians
    • [15] Haviland MB, Lussier-Cacan S, Davignon J, Sing CF. Impact of apolipoprotein E genotype variation on means, variances, and correlations of plasma lipid, lipoprotein, and apolipoprotein traits in octogenarians. Am J Med Genet 1995;58:315.
    • (1995) Am J Med Genet , vol.58 , pp. 315
    • Haviland, M.B.1    Lussier-Cacan, S.2    Davignon, J.3    Sing, C.F.4
  • 17
    • 0023117993 scopus 로고
    • Apolipoprotein E polymorphism in health and disease
    • [17] Utermann G. Apolipoprotein E polymorphism in health and disease. Am Heart J 1987;113:433.
    • (1987) Am Heart J , vol.113 , pp. 433
    • Utermann, G.1
  • 18
    • 0025257612 scopus 로고
    • Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with Hha I
    • [18] Hixson JE, Vernier DT. Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with Hha I. J Lipid Res 1990;31:545.
    • (1990) J Lipid Res , vol.31 , pp. 545
    • Hixson, J.E.1    Vernier, D.T.2
  • 19
    • 0025684773 scopus 로고
    • Apolipoprotein E polymorphism determined by restriction enzyme analysis of DNA amplified by polymerase chain reaccleavage tion: Convenient alternative to phenotyping by isolectric focucleavage sing
    • [19] Kontula K, Aalto-Setälä K, Kuusi T, Hämäläinen L, Syvänen AC. Apolipoprotein E polymorphism determined by restriction enzyme analysis of DNA amplified by polymerase chain reaccleavage tion: convenient alternative to phenotyping by isolectric focucleavage sing. Clin Chem 1990;36:2087.
    • (1990) Clin Chem , vol.36 , pp. 2087
    • Kontula, K.1    Aalto-Setälä, K.2    Kuusi, T.3    Hämäläinen, L.4    Syvänen, A.C.5
  • 20
    • 0024203298 scopus 로고
    • Apolipoprotein E genotyping using the polymerase chain reaction and allele-specific oligonucleotide probes
    • [20] Weisgraber KH, Newhouse YM, Mahley RW. Apolipoprotein E genotyping using the polymerase chain reaction and allele-specific oligonucleotide probes. Biochem Biophys Res Commun 1988;157:1212.
    • (1988) Biochem Biophys Res Commun , vol.157 , pp. 1212
    • Weisgraber, K.H.1    Newhouse, Y.M.2    Mahley, R.W.3
  • 21
    • 0028278865 scopus 로고
    • Genotyping compared with protein phenotyping of the common apolipoprotein E polymorphism
    • [21] Hansen PS, Gerdes LU, Klausen IC, Gregersen N, Faergeman O. Genotyping compared with protein phenotyping of the common apolipoprotein E polymorphism. Clin Chim Acta 1994;224:131.
    • (1994) Clin Chim Acta , vol.224 , pp. 131
    • Hansen, P.S.1    Gerdes, L.U.2    Klausen, I.C.3    Gregersen, N.4    Faergeman, O.5
  • 24
    • 0023930868 scopus 로고
    • The expert panel: Report of the national cholesterol education program expert panel on detection, evaluation, and treatment of high blood cholesterol in adults
    • [24] The Expert Panel: Report of the National Cholesterol Education Program expert panel on detection, evaluation, and treatment of high blood cholesterol in adults. Ann Int Med 1988;148:36.
    • (1988) Ann Int Med , vol.148 , pp. 36
  • 25
    • 33745026603 scopus 로고
    • Distribution and chemical composition of ultracentrifugally separated lipoproteins in human serum
    • [25] Havel RJ, Eder HA, Bragdon JH. Distribution and chemical composition of ultracentrifugally separated lipoproteins in human serum. J Clin Invest 1955;34:1345.
    • (1955) J Clin Invest , vol.34 , pp. 1345
    • Havel, R.J.1    Eder, H.A.2    Bragdon, J.H.3
  • 26
    • 0027279404 scopus 로고
    • Lipoprotein lipase in human plasma is mainly inactive and associated with cholesterol-rich lipoproteins
    • [26] Vilella E, Joven J, Fernández M et al. Lipoprotein lipase in human plasma is mainly inactive and associated with cholesterol-rich lipoproteins. J Lipid Res 1993;34:1555.
    • (1993) J Lipid Res , vol.34 , pp. 1555
    • Vilella, E.1    Joven, J.2    Fernández, M.3
  • 28
    • 0020478765 scopus 로고
    • Abnormal lipoprotein receptor binding activity of human apoprotein due to cysteine-arginine interchange at single site
    • [28] Weisgraber KH, Innerarity TL, Mahley RW. Abnormal lipoprotein receptor binding activity of human apoprotein due to cysteine-arginine interchange at single site. J Biol Chem 1982;257:2518.
    • (1982) J Biol Chem , vol.257 , pp. 2518
    • Weisgraber, K.H.1    Innerarity, T.L.2    Mahley, R.W.3
  • 29
    • 0020524629 scopus 로고
    • Identification of a new structural variant of human apolipoprotein E, E2 (Lys 146 → Gln) in a type III hyperlipoproteinemic subject with the E3/E2 phenotype
    • [29] Rall SC, Weisgraber KH, Innerarity TL, Bersot TP, Mahley RW, Blum CB. Identification of a new structural variant of human apolipoprotein E, E2 (Lys 146 → Gln) in a type III hyperlipoproteinemic subject with the E3/E2 phenotype. J Clin Invest 1993;72:1288.
    • (1993) J Clin Invest , vol.72 , pp. 1288
    • Rall, S.C.1    Weisgraber, K.H.2    Innerarity, T.L.3    Bersot, T.P.4    Mahley, R.W.5    Blum, C.B.6
  • 30
    • 0023389964 scopus 로고
    • Apolipoprotein E2-christchurch (136Arg → Ser). New variant of human apolipoprotein E in patients with type III hyperlipoproteinemia
    • [30] Wardell MR, Brennan SO, Janus ED, Fraser R, Carrell RW. Apolipoprotein E2-Christchurch (136Arg → Ser). New variant of human apolipoprotein E in patients with type III hyperlipoproteinemia. J Clin Invest 1987;80:483.
    • (1987) J Clin Invest , vol.80 , pp. 483
    • Wardell, M.R.1    Brennan, S.O.2    Janus, E.D.3    Fraser, R.4    Carrell, R.W.5
  • 31
    • 0029978151 scopus 로고    scopus 로고
    • Incomplete dominance of type III hyperlipoproteinemia is associated with the rare apolipoprotein E2 (Argl 36 → Ser) variant in multigenerational pedigree studies
    • [31] Pocovi M, Cenarro A, Civeira F, Myers RH, Casao E, Esteban M, Ordovas JM. Incomplete dominance of type III hyperlipoproteinemia is associated with the rare apolipoprotein E2 (Argl 36 → Ser) variant in multigenerational pedigree studies. Atherosclerosis 1996;122:33.
    • (1996) Atherosclerosis , vol.122 , pp. 33
    • Pocovi, M.1    Cenarro, A.2    Civeira, F.3    Myers, R.H.4    Casao, E.5    Esteban, M.6    Ordovas, J.M.7
  • 32
    • 0020172304 scopus 로고
    • Structural basis for receptor binding heterogeneity of apolipoprotein E from type III hyperlipoproteinemic subjects
    • [32] Rall SC, Weisgraber KH, Innerarity TL, Mahley RW. Structural basis for receptor binding heterogeneity of apolipoprotein E from type III hyperlipoproteinemic subjects. Proc Natl Acad Sci USA 1982;79:4696.
    • (1982) Proc Natl Acad Sci USA , vol.79 , pp. 4696
    • Rall, S.C.1    Weisgraber, K.H.2    Innerarity, T.L.3    Mahley, R.W.4
  • 33
    • 0024973015 scopus 로고
    • Apolipoprotein E-1 harrisburg a new variant of apo E dominantly associated with type III hyperlipoproteinemia
    • [33] Mann WA, Gregg RE, Sprecher DL, Brewer HB Jr. Apolipoprotein E-1 Harrisburg a new variant of apo E dominantly associated with type III hyperlipoproteinemia. Biochim Biophys Acta 1989;1005:239.
    • (1989) Biochim Biophys Acta , vol.1005 , pp. 239
    • Mann, W.A.1    Gregg, R.E.2    Sprecher, D.L.3    Brewer H.B., Jr.4
  • 35
    • 0024820009 scopus 로고
    • Apolipoprotein E3 leiden contains a seven amino acid insertion that is a tandem repeat of residues 121-127
    • [35] Wardell MR, Weisgraber KH, Havekes LM, Rall SC Jr. Apolipoprotein E3 Leiden contains a seven amino acid insertion that is a tandem repeat of residues 121-127. J Biol Chem 1989;264:21-205.
    • (1989) J Biol Chem , vol.264 , pp. 21-205
    • Wardell, M.R.1    Weisgraber, K.H.2    Havekes, L.M.3    Rall S.C., Jr.4
  • 36
    • 0021270645 scopus 로고
    • A novel electrophoretic variant of human apolipoprotein E. Identification and characterization of apolipoprotein E1
    • [36] Weisgraber KH, Rall SC Jr, Innerarity TL, Mahley RW, Kuusi T, Elnholm C. A novel electrophoretic variant of human apolipoprotein E. Identification and characterization of apolipoprotein E1. J Clin Invest 1984;73:1024.
    • (1984) J Clin Invest , vol.73 , pp. 1024
    • Weisgraber, K.H.1    Rall S.C., Jr.2    Innerarity, T.L.3    Mahley, R.W.4    Kuusi, T.5    Elnholm, C.6
  • 37
    • 0029826254 scopus 로고    scopus 로고
    • Frequency of phenotype-genotype discrepancies at the apolipoprotein E locus in a large population study
    • in press
    • [37] Lahoz C, Osgood D, Wilson PWF, Scheafer EJ, Ordovas JM. Frequency of phenotype-genotype discrepancies at the apolipoprotein E locus in a large population study. Clin Chem 1996 (in press).
    • Clin Chem 1996
    • Lahoz, C.1    Osgood, D.2    Wilson, P.W.F.3    Scheafer, E.J.4    Ordovas, J.M.5
  • 38
    • 0025771286 scopus 로고
    • Familial dysbetalipoproteinemia associated with apolipoprotein E3-Leiden in an extended multigeneration pedigree
    • [38] de Knijff P, van den Maagdenberg JM, Stalenhoef AFH et al. Familial dysbetalipoproteinemia associated with apolipoprotein E3-Leiden in an extended multigeneration pedigree. J Clin Invest 1991;88:643.
    • (1991) J Clin Invest , vol.88 , pp. 643
    • De Knijff, P.1    Van Den Maagdenberg, J.M.2    Stalenhoef, A.F.H.3
  • 39
    • 0020606476 scopus 로고
    • A typical familial dysbetalipoproteinemia associated with apolipoprotein phenotype E3/3
    • [39] Havel RJ, Kotite L, Kane JP, Tun P, Bersot T. A typical familial dysbetalipoproteinemia associated with apolipoprotein phenotype E3/3. J Clin Invest 1983;72:379.
    • (1983) J Clin Invest , vol.72 , pp. 379
    • Havel, R.J.1    Kotite, L.2    Kane, J.P.3    Tun, P.4    Bersot, T.5
  • 40
    • 0025923646 scopus 로고
    • 145 → Cys). Homozygosity for rare point mutations in the apolipoprotein E gene combined with severe type III hyperlipoproteinemia
    • 145 → Cys). Homozygosity for rare point mutations in the apolipoprotein E gene combined with severe type III hyperlipoproteinemia. J Biol Chem 1991;266:10 479.
    • (1991) J Biol Chem , vol.266 , pp. 10479
    • Lohse, P.1    Mann, A.2    Stein, E.A.3    Brewer H.B., Jr.4
  • 41
    • 0026681614 scopus 로고
    • 145 → Cys) is associated with incomplete dominance of type III hyperlipoproteinemia
    • 145 → Cys) is associated with incomplete dominance of type III hyperlipoproteinemia. J Biol Chem 1992;267:13 642.
    • (1992) J Biol Chem , vol.267 , pp. 13642
    • Lohse, P.1    Rader, D.J.2    Brewer H.B., Jr.3
  • 43
    • 0024397001 scopus 로고
    • Human apolipoprotein E. Receptor binding activity of truncated variants with carboxyl terminal delections
    • [43] Lalazar A, Ou SI, Mahley RW. Human apolipoprotein E. Receptor binding activity of truncated variants with carboxyl terminal delections. J Biol Chem 1989;264:8447.
    • (1989) J Biol Chem , vol.264 , pp. 8447
    • Lalazar, A.1    Ou, S.I.2    Mahley, R.W.3
  • 44
    • 0029160040 scopus 로고
    • Dominant expression of type III hyperlipoproteinemia. Pathophysiologicat insights derived from the structural and kinetic characteristics of apo E-1(Lys146 → Glu)
    • [44] Mann WA, Lohse P, Gregg RE et al. Dominant expression of type III hyperlipoproteinemia. Pathophysiologicat insights derived from the structural and kinetic characteristics of apo E-1(Lys146 → Glu). J Clin Invest 1995;96:1100.
    • (1995) J Clin Invest , vol.96 , pp. 1100
    • Mann, W.A.1    Lohse, P.2    Gregg, R.E.3
  • 45
    • 0021211156 scopus 로고
    • Normalization of receptor binding of apolipoprotein E2. Evidence for modulation of the binding site conformation
    • [45] Innerarity TL, Weisgraber KH, Arnold KS, Rall SC Jr, Mahley RW. Normalization of receptor binding of apolipoprotein E2. Evidence for modulation of the binding site conformation. J Biol Chem 1984;259:7261.
    • (1984) J Biol Chem , vol.259 , pp. 7261
    • Innerarity, T.L.1    Weisgraber, K.H.2    Arnold, K.S.3    Rall S.C., Jr.4    Mahley, R.W.5
  • 46
    • 0025341190 scopus 로고
    • Frequency and role of apo E phenotype in familial hypercholesterolemia and non-familial hyperlipidemia in the Japanese
    • [46] Kitahara M, Shinomiya M, Shirai K, Saito Y, Yoshida S. Frequency and role of apo E phenotype in familial hypercholesterolemia and non-familial hyperlipidemia in the Japanese. Atherosclerosis 1990;82:197.
    • (1990) Atherosclerosis , vol.82 , pp. 197
    • Kitahara, M.1    Shinomiya, M.2    Shirai, K.3    Saito, Y.4    Yoshida, S.5
  • 47
    • 0026514988 scopus 로고    scopus 로고
    • Modulation of plasma triglyceride levels by apo E phenotype: A meta-analysis
    • [47] Dallongeville J, Lussier-Cacan S, Davignon J. Modulation of plasma triglyceride levels by apo E phenotype: a meta-analysis. J Lipid Res;33:447.
    • J Lipid Res , vol.33 , pp. 447
    • Dallongeville, J.1    Lussier-Cacan, S.2    Davignon, J.3
  • 48
    • 0025785658 scopus 로고
    • Type III dyslipoproteinemia in patients heterozygous for familial hypercholesterolemia and apolipoprotein E2. Evidence for a gene-gene interaction
    • [48] Hopkins PN, Wu LL, Schumacher MC et al. Type III dyslipoproteinemia in patients heterozygous for familial hypercholesterolemia and apolipoprotein E2. Evidence for a gene-gene interaction. Arterioscler Thromb 1991;11:1137.
    • (1991) Arterioscler Thromb , vol.11 , pp. 1137
    • Hopkins, P.N.1    Wu, L.L.2    Schumacher, M.C.3


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