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Volumn 42, Issue 11, 1996, Pages 1817-1823

Frequency of phenotype-genotype discrepancies at the apolipoprotein E locus in a large population study

Author keywords

genetic epidemiology; genetics; lipids; polymerase chain reaction

Indexed keywords

APOLIPOPROTEIN E; CHOLESTEROL; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN CHOLESTEROL;

EID: 0029826254     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1093/clinchem/42.11.1817     Document Type: Article
Times cited : (38)

References (38)
  • 1
    • 0024299370 scopus 로고
    • Apolipoprotein E: Cholesterol transport protein with expanding role in cell biology
    • Mahley RW. Apolipoprotein E: cholesterol transport protein with expanding role in cell biology. Science 1988;240:622-30.
    • (1988) Science , vol.240 , pp. 622-630
    • Mahley, R.W.1
  • 2
    • 0020490536 scopus 로고
    • Human apolipoprotein E: The complete amino acid sequence
    • Rall SC, Weisgraber KH, Mahley RW. Human apolipoprotein E: the complete amino acid sequence. J Biol Chem 1982;257:4171-8.
    • (1982) J Biol Chem , vol.257 , pp. 4171-4178
    • Rall, S.C.1    Weisgraber, K.H.2    Mahley, R.W.3
  • 3
    • 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
    • Schaefer EJ, Lamon-Fava S, Johnson S, Ordovas JM, Schaefer MM, Castelli WP, 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;14:1105-13.
    • (1994) Arterioscler Thromb , vol.14 , pp. 1105-1113
    • Schaefer, E.J.1    Lamon-Fava, S.2    Johnson, S.3    Ordovas, J.M.4    Schaefer, M.M.5    Castelli, W.P.6
  • 4
    • 84942951233 scopus 로고
    • Apolipoprotein E alleles, dyslipidemia, and coronary heart disease: The Framingham Offspring Study
    • Wilson PWF, Myers RH, Larson MG, Ordovas JM, Wolf PA, Schaefer EJ. Apolipoprotein E alleles, dyslipidemia, and coronary heart disease: the Framingham Offspring Study. JAMA 1994; 272:1666-71.
    • (1994) JAMA , vol.272 , pp. 1666-1671
    • Wilson, P.W.F.1    Myers, R.H.2    Larson, M.G.3    Ordovas, J.M.4    Wolf, P.A.5    Schaefer, E.J.6
  • 6
    • 0027997830 scopus 로고
    • Effect of apolipoprotein E phenotype on diet-induced lowering of plasma low density lipoprotein cholesterol
    • Lopez-Miranda J, Ordovas JM, Mata P, Lichtenstein AH, Clevidence B, Judd JT, et al. Effect of apolipoprotein E phenotype on diet-induced lowering of plasma low density lipoprotein cholesterol. J Lipid Res 1994;35:1965-75.
    • (1994) J Lipid Res , vol.35 , pp. 1965-1975
    • Lopez-Miranda, J.1    Ordovas, J.M.2    Mata, P.3    Lichtenstein, A.H.4    Clevidence, B.5    Judd, J.T.6
  • 7
    • 0028901424 scopus 로고
    • Effect of apolipoprotein E and A-IV phenotypes on the low density lipoprotein response to HMG CoA reductase inhibitor therapy
    • Ordovas JM, Lopez-Miranda J, Perez-Jimenez F, Rodriguez C, Park JS, Cole T, et al. Effect of apolipoprotein E and A-IV phenotypes on the low density lipoprotein response to HMG CoA reductase inhibitor therapy. Atherosclerosis 1995;113:157-66.
    • (1995) Atherosclerosis , vol.113 , pp. 157-166
    • Ordovas, J.M.1    Lopez-Miranda, J.2    Perez-Jimenez, F.3    Rodriguez, C.4    Park, J.S.5    Cole, T.6
  • 8
    • 0023133252 scopus 로고
    • Apolipoprotein E isoform phenotyping methodology and population frequency with identification of apoE1 and apoE5 isoforms
    • Ordovas JM, Litwack-Klein L, Wilson PWF, Schaefer MM, Schaefer EJ. Apolipoprotein E isoform phenotyping methodology and population frequency with identification of apoE1 and apoE5 isoforms. J Lipid Res 1987;28:371-80.
    • (1987) J Lipid Res , vol.28 , pp. 371-380
    • Ordovas, J.M.1    Litwack-Klein, L.2    Wilson, P.W.F.3    Schaefer, M.M.4    Schaefer, E.J.5
  • 9
    • 84988119565 scopus 로고
    • Apolipoprotein E phenotyping from serum by western blotting
    • Menzel HJ, Utermann G. Apolipoprotein E phenotyping from serum by western blotting. Electrophoresis 1986;7:492-6.
    • (1986) Electrophoresis , vol.7 , pp. 492-496
    • Menzel, H.J.1    Utermann, G.2
  • 10
    • 0025257612 scopus 로고
    • Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with Hhal
    • Hixson JE, Vernier DT. Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with Hhal. J Lipid Res 1990;31:545-8.
    • (1990) J Lipid Res , vol.31 , pp. 545-548
    • Hixson, J.E.1    Vernier, D.T.2
  • 11
    • 0028245754 scopus 로고
    • Apolipoprotein E in hyperlipidemia
    • Walden CC, Hegele RA. Apolipoprotein E in hyperlipidemia. Ann Intern Med 1994;120:1026-36.
    • (1994) Ann Intern Med , vol.120 , pp. 1026-1036
    • Walden, C.C.1    Hegele, R.A.2
  • 12
    • 0025684773 scopus 로고
    • Apolipoprotein E polymorphism determined by restriction enzyme analysis of DNA amplified by polymerase chain reaction: Convenient alternative to phenotyping by isoelectric focusing
    • Kontula K, Aalto-Setälä K, Kuusi T, Hämäläinen L, Syvänen A-C. Apolipoprotein E polymorphism determined by restriction enzyme analysis of DNA amplified by polymerase chain reaction: convenient alternative to phenotyping by isoelectric focusing. Clin Chem 1990;36:2087-92.
    • (1990) Clin Chem , vol.36 , pp. 2087-2092
    • Kontula, K.1    Aalto-Setälä, K.2    Kuusi, T.3    Hämäläinen, L.4    Syvänen, A.-C.5
  • 13
    • 0026087454 scopus 로고
    • Disparity between apolipoprotein E phenotypes and genotypes (as determined by polymerase chain reaction and oligonucleotide probes) in patients with non-insulin-dependent diabetes mellitus
    • Snowden C, Houlston RS, Arif MH, Laker MF, Humphries SE, Alberti KGMM. Disparity between apolipoprotein E phenotypes and genotypes (as determined by polymerase chain reaction and oligonucleotide probes) in patients with non-insulin-dependent diabetes mellitus. Clin Chim Acta 1991;196:49-58.
    • (1991) Clin Chim Acta , vol.196 , pp. 49-58
    • Snowden, C.1    Houlston, R.S.2    Arif, M.H.3    Laker, M.F.4    Humphries, S.E.5    Alberti, K.G.M.M.6
  • 14
    • 0026075638 scopus 로고
    • Apolipoprotein E phenotyping: A word of caution
    • Wenham PR, Sedky A, Spooner RJ. Apolipoprotein E phenotyping: a word of caution. Ann Clin Biochem 1991;28:599-605.
    • (1991) Ann Clin Biochem , vol.28 , pp. 599-605
    • Wenham, P.R.1    Sedky, A.2    Spooner, R.J.3
  • 15
    • 0026480031 scopus 로고
    • Estimation of the frequency of isoform-genotype discrepancies at the apolipoprotein E locus in heterozygotes for the isoforms
    • Mailly F, Moll P, Kottke BA, Kamboh MI, Humphries SE, Ferrell RE. Estimation of the frequency of isoform-genotype discrepancies at the apolipoprotein E locus in heterozygotes for the isoforms. Genet Epidemiol 1992;9:239-48.
    • (1992) Genet Epidemiol , vol.9 , pp. 239-248
    • Mailly, F.1    Moll, P.2    Kottke, B.A.3    Kamboh, M.I.4    Humphries, S.E.5    Ferrell, R.E.6
  • 17
    • 0027515546 scopus 로고
    • Determination of apolipoprotein E genotypes by single-strand conformational polymorphism
    • Tsai MY, Suess P, Schwichtenberg K, Eckfeldt JH, Yuan J, Tuchman M, et al. Determination of apolipoprotein E genotypes by single-strand conformational polymorphism. Clin Chem 1993;39: 2121-4.
    • (1993) Clin Chem , vol.39 , pp. 2121-2124
    • Tsai, M.Y.1    Suess, P.2    Schwichtenberg, K.3    Eckfeldt, J.H.4    Yuan, J.5    Tuchman, M.6
  • 18
    • 0027291449 scopus 로고
    • Apolipoprotein E phenotypes and genotypes as determined by polymerase chain reaction using allele-specific oligonucleotide probes and the amplification refractory mutation system in children with insulin-dependent diabetes mellitus
    • Stavljenic-Rukavina A, Sertic J, Salzer B, Dumic M, Radica A, Fumic K, et al. Apolipoprotein E phenotypes and genotypes as determined by polymerase chain reaction using allele-specific oligonucleotide probes and the amplification refractory mutation system in children with insulin-dependent diabetes mellitus. Clin Chim Acta 1993;216:191-8.
    • (1993) Clin Chim Acta , vol.216 , pp. 191-198
    • Stavljenic-Rukavina, A.1    Sertic, J.2    Salzer, B.3    Dumic, M.4    Radica, A.5    Fumic, K.6
  • 19
    • 0028297868 scopus 로고
    • Phenotyping is an accurate means of analysing the principal apolipoprotein E isoforms
    • James RW, Ruiz J, Blanché H, Pometta D, Passa P, Froguel P. Phenotyping is an accurate means of analysing the principal apolipoprotein E isoforms. Clin Chim Acta 1994;225:77-82.
    • (1994) Clin Chim Acta , vol.225 , pp. 77-82
    • James, R.W.1    Ruiz, J.2    Blanché, H.3    Pometta, D.4    Passa, P.5    Froguel, P.6
  • 20
    • 0028278865 scopus 로고
    • Genotyping compared with protein phenotyping of the common apolipoprotein E polymorphism
    • 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;224:131-7.
    • (1994) Clin Chim Acta , vol.224 , pp. 131-137
    • Hansen, P.S.1    Gerdes, L.U.2    Klausen, I.C.3    Gregersen, N.4    Faergeman, O.5
  • 21
    • 0023186871 scopus 로고
    • The use of measured genotype information in the analysis of quantitative phenotypes in man. II. The role of the apolipoprotein E polymorphism in determining levels, variability and covariability of cholesterol, betalipoprotein and triglycerides in a sample of unrelated individuals
    • Boerwinkle E, Visvikis S, Welsh D, Steinmetz J, Hanash SM, Sing CF. The use of measured genotype information in the analysis of quantitative phenotypes in man. II. The role of the apolipoprotein E polymorphism in determining levels, variability and covariability of cholesterol, betalipoprotein and triglycerides in a sample of unrelated individuals. Am J Med Genet 1987;27:567-82.
    • (1987) Am J Med Genet , vol.27 , pp. 567-582
    • Boerwinkle, E.1    Visvikis, S.2    Welsh, D.3    Steinmetz, J.4    Hanash, S.M.5    Sing, C.F.6
  • 23
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1989;16:1215.
    • (1989) Nucleic Acids Res , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 24
    • 0020004724 scopus 로고
    • 2+ precipitation procedure for quantitation of high-density-lipoprotein cholesterol
    • 2+ precipitation procedure for quantitation of high-density-lipoprotein cholesterol. Clin Chem 1982;28:1379-88.
    • (1982) Clin Chem , vol.28 , pp. 1379-1388
    • Warnick, R.1    Benderson, J.2    Albers, J.J.3
  • 25
    • 0027436794 scopus 로고
    • DNA storage and duplicate sampling: Lesson learnt from testing for Huntington's disease
    • Morrison PJ, Graham CA, Nevin NC. DNA storage and duplicate sampling: lesson learnt from testing for Huntington's disease. J Med Genet 1993;30:1042.
    • (1993) J Med Genet , vol.30 , pp. 1042
    • Morrison, P.J.1    Graham, C.A.2    Nevin, N.C.3
  • 27
    • 0028302053 scopus 로고
    • Rapid identification of the common apoE isoforms genotype using polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP)
    • Aozaki R, Kawaguchi R, Ogasu U, Hikiji K, Kubo N, Sakuraboyashi I. Rapid identification of the common apoE isoforms genotype using polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP). Mol Cell Probes 1994;8:51-4.
    • (1994) Mol Cell Probes , vol.8 , pp. 51-54
    • Aozaki, R.1    Kawaguchi, R.2    Ogasu, U.3    Hikiji, K.4    Kubo, N.5    Sakuraboyashi, I.6
  • 28
    • 0028941397 scopus 로고
    • Apolipoprotein E genotyping methods for the clinical laboratory
    • Maekawa B, Cole TG, Seip RL, Bylund D. Apolipoprotein E genotyping methods for the clinical laboratory. J Clin Lab Anal 1995;9:63-9.
    • (1995) J Clin Lab Anal , vol.9 , pp. 63-69
    • Maekawa, B.1    Cole, T.G.2    Seip, R.L.3    Bylund, D.4
  • 29
    • 0023860891 scopus 로고
    • Apolipoprotein E polymorphism and atherosclerosis
    • Davignon J, Gregg RE, Sing CF. Apolipoprotein E polymorphism and atherosclerosis. Arteriosclerosis 1988;8:1-21.
    • (1988) Arteriosclerosis , vol.8 , pp. 1-21
    • Davignon, J.1    Gregg, R.E.2    Sing, C.F.3
  • 30
    • 0021824223 scopus 로고
    • Role of the apolipoprotein E polymorphism in determining normal plasma lipid and lipoprotein variation
    • Sing CF, Davignon J. Role of the apolipoprotein E polymorphism in determining normal plasma lipid and lipoprotein variation. Am J Hum Genet 1985;37:268-85.
    • (1985) Am J Hum Genet , vol.37 , pp. 268-285
    • Sing, C.F.1    Davignon, J.2
  • 31
    • 0022539782 scopus 로고
    • Reciprocal effects of apolipoprotein E alleles (e2 and e4) on plasma lipid levels in normolipidemic subjects
    • Eto M, Watanabe K, Ishii K. Reciprocal effects of apolipoprotein E alleles (e2 and e4) on plasma lipid levels in normolipidemic subjects. Clin Genet 1986;29:477-84.
    • (1986) Clin Genet , vol.29 , pp. 477-484
    • Eto, M.1    Watanabe, K.2    Ishii, K.3
  • 32
    • 0028820742 scopus 로고
    • High-throughput method for determination of apolipoprotein E genotypes with use of restriction digestion analysis by microplate array diagonal gel electrophoresis
    • Bolla MK, Haddad L, Humphries SE, Winder AF, Day IN. High-throughput method for determination of apolipoprotein E genotypes with use of restriction digestion analysis by microplate array diagonal gel electrophoresis. Clin Chem 1995;41:1599-604.
    • (1995) Clin Chem , vol.41 , pp. 1599-1604
    • Bolla, M.K.1    Haddad, L.2    Humphries, S.E.3    Winder, A.F.4    Day, I.N.5
  • 33
    • 0029102207 scopus 로고
    • Phenotyping of apolipoprotein E using immobilized pH gradient gels for one-dimensional and two-dimensional separations
    • Golaz O, Sanchez JC, James RW, Hochstrasser DF. Phenotyping of apolipoprotein E using immobilized pH gradient gels for one-dimensional and two-dimensional separations. Electrophoresis 1995;16:1184-6.
    • (1995) Electrophoresis , vol.16 , pp. 1184-1186
    • Golaz, O.1    Sanchez, J.C.2    James, R.W.3    Hochstrasser, D.F.4
  • 34
    • 0029060406 scopus 로고
    • Apolipoprotein E polymorphism in Italy investigated in native plasma by a simple polyacrilamide gel isoelectric focusing technique. Comparison with frequency data of other European populations
    • Corbo RM, Scacchi R, Mureddu L, Mulas G, Alfano G. Apolipoprotein E polymorphism in Italy investigated in native plasma by a simple polyacrilamide gel isoelectric focusing technique. Comparison with frequency data of other European populations. Ann Hum Genet 1995;59:197-209.
    • (1995) Ann Hum Genet , vol.59 , pp. 197-209
    • Corbo, R.M.1    Scacchi, R.2    Mureddu, L.3    Mulas, G.4    Alfano, G.5
  • 35
    • 0026560621 scopus 로고
    • Rapid and simple method for the identification of apolipoprotein E isomorphic phenotypes from whole serum
    • Kolhmeier M, Drossel HJ, Sinha P, Kottgen E. Rapid and simple method for the identification of apolipoprotein E isomorphic phenotypes from whole serum. Electrophoresis 1992;13:258-61.
    • (1992) Electrophoresis , vol.13 , pp. 258-261
    • Kolhmeier, M.1    Drossel, H.J.2    Sinha, P.3    Kottgen, E.4
  • 36
    • 0028155887 scopus 로고
    • Common and rare genotypes of human apolipoprotein E determined by specific restriction profiles of polymerase chain reaction-amplified DNA
    • Richard P, Thomas G, de Zulueta MP, De gennes JL, Thomas M, Cassaigne A, et al. Common and rare genotypes of human apolipoprotein E determined by specific restriction profiles of polymerase chain reaction-amplified DNA. Clin Chem 1994;40: 24-9.
    • (1994) Clin Chem , vol.40 , pp. 24-29
    • Richard, P.1    Thomas, G.2    De Zulueta, M.P.3    De Gennes, J.L.4    Thomas, M.5    Cassaigne, A.6
  • 37
    • 0027193817 scopus 로고
    • Genetic mutations affecting human lipoproteins, their receptors, and their enzymes
    • Harris H, Hirschhorn K, eds. New York: Plenum Press
    • Zannis VI, Kardassis D, Zanni EE. Genetic mutations affecting human lipoproteins, their receptors, and their enzymes. In: Harris H, Hirschhorn K, eds. Advances in human genetics, Vol. 21. New York: Plenum Press, 1993:145-316.
    • (1993) Advances in Human Genetics , vol.21 , pp. 145-316
    • Zannis, V.I.1    Kardassis, D.2    Zanni, E.E.3
  • 38
    • 0029978151 scopus 로고    scopus 로고
    • Incomplete dominance of type III hyperlipoproteinemia is associated with the rare apolipoprotein E2 (Arg136→Ser) variant in multigenerational pedigree studies
    • 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 (Arg136→Ser) variant in multigenerational pedigree studies. Atherosclerosis 1996;122:33-46.
    • (1996) Atherosclerosis , vol.122 , pp. 33-46
    • Pocovi, M.1    Cenarro, A.2    Civeira, F.3    Myers, R.H.4    Casao, E.5    Esteban, M.6    Ordovas, J.M.7


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