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Variation in 5' Promoter Region of the APOE gene Contributes to Predicting Ischemic Heart Disease (IHD) in the Population at Large: the Copenhagen City Heart Study

dc.contributor.authorStengård, J. H.en_US
dc.contributor.authorFrikke-Schmidt, Ruthen_US
dc.contributor.authorTybjæ;rg-Hansen, A.en_US
dc.contributor.authorNordestgaard, B. G.en_US
dc.contributor.authorSing, Charles F.en_US
dc.date.accessioned2010-04-01T14:56:09Z
dc.date.available2010-04-01T14:56:09Z
dc.date.issued2007-11en_US
dc.identifier.citationStengÅrd, J. H.; Frikke-Schmidt, R.; TybjÆ;rg-Hansen, A.; Nordestgaard, B.G.; Sing, C.F. (2007). "Variation in 5' Promoter Region of the APOE gene Contributes to Predicting Ischemic Heart Disease (IHD) in the Population at Large: the Copenhagen City Heart Study." Annals of Human Genetics 71(6): 762-771. <http://hdl.handle.net/2027.42/65393>en_US
dc.identifier.issn0003-4800en_US
dc.identifier.issn1469-1809en_US
dc.identifier.urihttps://hdl.handle.net/2027.42/65393
dc.identifier.urihttp://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=17535270&dopt=citationen_US
dc.description.abstractThe objective of this study was to evaluate whether an increased hazard of developing ischemic heart disease (IHD) is associated with any of the three genotypes A 560 T 832 /A 560 T 832 , A 560 T 832 /A 560 G 832 and A 560 T 832 /T 560 T 832, defined by variations in two non-coding SNPs in the 5′ promoter region of the apolipoprotein E ( APOE) gene. These genotypes were selected because they distinguished between high and low levels of HDL-C, TG and/or T-C in our earlier study of multiple samples defined by gender and population. We found a significant increase (p<0.05) in the hazard of IHD in females with the A 560 T 832 /T 560 T 832 genotype that remained significant after fitting the effects of dyslipidemia, other established risk factors, and the structural isoform variations of the ApoE molecule. We discuss why this statistically significant genetic predictor may not be an appropriate screening test for IHD in the Danish population at large.en_US
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dc.format.extent3110 bytes
dc.format.mimetypeapplication/pdf
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dc.publisherBlackwell Publishing Ltden_US
dc.rights2007 The Authors Journal compilation © 2007 University College Londonen_US
dc.subject.otherAPOE Geneen_US
dc.subject.otherRegulatory Variationen_US
dc.subject.otherPrediction of IHDen_US
dc.titleVariation in 5' Promoter Region of the APOE gene Contributes to Predicting Ischemic Heart Disease (IHD) in the Population at Large: the Copenhagen City Heart Studyen_US
dc.typeArticleen_US
dc.rights.robotsIndexNoFollowen_US
dc.subject.hlbsecondlevelGeneticsen_US
dc.subject.hlbtoplevelHealth Sciencesen_US
dc.description.peerreviewedPeer Revieweden_US
dc.contributor.affiliationumDepartment of Human Genetics, University of Michigan, Ann Arbor, MI 48109, USAen_US
dc.contributor.affiliationotherDepartment of Epidemiology and Health Promotion, National Public Health Institute, Mannerheimintie 166 FIN-00300, Helsinki, Finlanden_US
dc.contributor.affiliationotherDepartment of Clinical Biochemistry, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark DK-2100en_US
dc.contributor.affiliationotherDepartment of Clinical Biochemistry, Herlev University Hospital, Herlev, Denmark DK-2730en_US
dc.identifier.pmid17535270en_US
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/65393/1/j.1469-1809.2007.00370.x.pdf
dc.identifier.doi10.1111/j.1469-1809.2007.00370.xen_US
dc.identifier.sourceAnnals of Human Geneticsen_US
dc.identifier.citedreferenceArtiga, M. J., Bullido, M. J., Sastre, I. et al. ( 1998 ) Allelic polymorphisms in the transcriptional regulatory region of apolipoprotein E gene. FEBS Lett 421, 105 – 108.en_US
dc.identifier.citedreferenceBarrett-Connor, E. & Khaw, K-T. ( 1984 ) Family history of heart attack as an independent predictor of death due to cardiovascular disease. Circulation 69, 1065 – 1069.en_US
dc.identifier.citedreferenceCrawford, D. C., Carlson, C. S., Rieder, M. J. et al. ( 2004 ) Haplotype diversity across 100 candidate genes for inflammation, lipid metabolism, and blood pressure regulation in two populations. Am J Hum Genet 74, 610 – 622.en_US
dc.identifier.citedreferenceDavignon, J., Cohn, J. S., Mabile, L. et al. ( 1999 ) Apolipoprotein E and atherosclerosis: insight from animal and human studies. Clin Chim Acta 286, 115 – 143.en_US
dc.identifier.citedreferenceDavignon, J., Gregg, R. E. & Sing, C. F. ( 1988 ) Apolipoprotein E polymorphism and atherosclerosis. Arteriosclerosis 8, 1 – 21.en_US
dc.identifier.citedreferenceDe Backer, G., Ambrosioni, E., Borch-Johnsen, K. et al. ( 2003 ) European guidelines on cardiovascular disease prevention in clinical practice: Third joint task force of European and other societies on cardiovascular disease prevention in clinical practice. Eur Heart J 24, 1601 – 1610.en_US
dc.identifier.citedreferenceEveritt, B. S. ( 1994 ) Statistical methods for medical investigations. New York, NY : Halsted Press.en_US
dc.identifier.citedreferenceFletcher, R. W. & Fletcher, S. W. ( 2005 ) Clinical epidemiology; the essentials. Philadelphia, PA : Lippincott Williams & Wilkins.en_US
dc.identifier.citedreferenceFreimer, N. & Sabatti, C. ( 2004 ) The use of pedigree, sib-pair and association studies of common diseases for genetic mapping and epidemiology. Nat Genet 36, 1045 – 1051.en_US
dc.identifier.citedreferenceFrikke-Schmidt, R., Nordestgaard, B. G., Agerholm-Larsen, B. et al. ( 2000a ) Context-dependent and invariant associations between lipids, lipoproteins, and apolipoproteins and apolipoprotein E genotype. J Lipid Res 41, 1812 – 1822.en_US
dc.identifier.citedreferenceFrikke-Schmidt, R., Sing, C. F., Nordestgaard, B. G. et al. ( 2007 ) Subsets of SNPs define rare genotype classes that predict ischemic heart disease. Hum Genet 120, 865 – 877.en_US
dc.identifier.citedreferenceFrikke-Schmidt, R., Sing, C. F., Nordestgaard, B. G. et al. ( 2004 ) Gender- and age-specific contributions of additional DNA sequence variation in the 5′ regulatory region of the APOE gene to prediction of measures of lipid metabolism. Hum Genet 115, 331 – 345.en_US
dc.identifier.citedreferenceFrikke-Schmidt, R., TybjÆ;rg-Hansen, A., Steffensen, R. et al. ( 2000b ) Apolipoprotein E genotype: epsilon32 women are protected while epsilon43 and epsilon44 men are susceptible to ischemic heart disease: the Copenhagen City Heart Study. J Am Coll Cardiol 35, 1192 – 1199.en_US
dc.identifier.citedreferenceFullerton, S. M., Buchanan, A. V., Sonpar, V. et al. ( 2004 ) The effects of scale: variation in the APOA1/C3/A4/A5 gene cluster. Hum Genet 115, 36 – 56.en_US
dc.identifier.citedreferenceFullerton, S. M., Clark, A. G., Weiss, K. M. et al. ( 2000 ) Apolipoprotein E variation at the sequence haplotype level: implications for the origin and maintenance of a major human polymorphism. Am J Hum Genet 67, 881 – 900.en_US
dc.identifier.citedreferenceGuttmacher, A. E. & Collins, F. S. ( 2005 ) Realizing the promise of genomics in biomedical research. JAMA 294, 1399 – 1402.en_US
dc.identifier.citedreferenceHixson, J. E. & Vernier, D. T. ( 1990 ) Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with Hha I. J Lipid Res 31, 545 – 548.en_US
dc.identifier.citedreferenceIoannidis, J. P., Ntzani, E. E., Trikalinos, T. A. et al. ( 2001 ) Replication validity of genetic association studies. Nat Genet 29, 306 – 309.en_US
dc.identifier.citedreferenceKnoblauch, H., Bauerfeind, A., Toliat, M. R. et al. ( 2004 ) Haplotypes and SNPs in 13 lipid-relevant genes explain most of the genetic variance in high-density lipoprotein and low-density lipoprotein cholesterol. Mol Genet 13, 993 – 1004.en_US
dc.identifier.citedreferenceLambert, J. C., Brousseau, T., Defosse, V. et al. ( 2000 ) Independent association of an APOE gene promoter polymorphism with increased risk of myocardial infarction and decreased APOE plasma concentrations-the ECTIM study. Hum Mol Genet 9, 57 – 61.en_US
dc.identifier.citedreferenceLambert, J. C., Coyle, N. & Lendon, C. ( 2004 ) The allelic modulation of apolipoprotein E expression by oestrogen: potential relevance for Alzheimer's disease. J Med Genet 41, 104 – 112.en_US
dc.identifier.citedreferenceLambert, J. C., Mann, D., Richard, F. et al. ( 2005 ) Is there a relation between APOE expression and brain amyloid load in Alzheimer's disease? J Neurol Neurosurg Psychiatry 76, 928 – 933.en_US
dc.identifier.citedreferenceLehtinen, S., LehtimÄki, T., Sisto, T. et al. ( 1995 ) Apolipoprotein E polymorphism, serum lipids, myocardial infarction and severity of angiographically verified coronary artery disease in men and women. Atherosclerosis 114, 83 – 91.en_US
dc.identifier.citedreferenceLussier-Cacan, S., Bolduc, A., Xhignesse, M. et al. ( 2002 ) Impact of alcohol intake on measures of lipid metabolism depends on context defined by gender, body mass index, cigarette smoking, and Apolipoprotein E genotype. Arterioscler Thromb Vasc Biol 22, 824 – 831.en_US
dc.identifier.citedreferenceMahley, R. W. ( 1988 ) Apolipoprotein E: cholesterol transport protein with expanding role in cell biology. Science 240, 622 – 630.en_US
dc.identifier.citedreferenceMahley, R. W. & Rall, S. C. Jr. ( 2000 ) Apolipoprotein E: far more than a lipid transport protein. In : Annual review of genomics and human genetics, eds. E. Lander, D. Page, & E. Lifton, pp 507 – 538. Palo Alto, CA : Annual Reviews Inc.en_US
dc.identifier.citedreferenceMiettinen, T. A., Gylling, H., Vanhanen, H. et al. ( 1992 ) Cholesterol absorption, elimination, and synthesis related to LDL kinetics during varying fat intake in men with different apoprotein E phenotypes. Arterioscler Thromb 12, 1044 – 1052.en_US
dc.identifier.citedreferenceNabel, E. G. ( 2003 ) Cardiovascular disease. N Engl J Med 349, 60 – 72.en_US
dc.identifier.citedreferenceNational Cholesterol Education Program National Heart, Lung, and Blood Institute ( 2002 ) Third Report of the National Cholesterol Education Program (NCEP) Expert panel on detection, evaluation, and treatment of high blood cholesterol in adults (Adult Treatment Panel III) final report. Washington, DC : NIH Publication No 02-5215, September.en_US
dc.identifier.citedreferenceNelson, M. R., Kardia, S. L., Ferrell, R. et al. ( 2001 ) A CPM to identify multilocus genotypic partitions that predict quantitative trait variation. Genome Res 11, 458 - 470.en_US
dc.identifier.citedreferenceNickerson, D. A. ( 2005 ) Department of Genome Sciences University of Washington; Nickerson Group, MDECODE; SNP data : http://droog.gs.washington.edu/mdecodeen_US
dc.identifier.citedreferenceNickerson, D. A., Taylor, S. L., Fullerton, S. M. et al. ( 2000 ) Sequence diversity and large scale typing of SNPs in the human apolipoprotein E gene. Genome Res 10, 1532 – 1545.en_US
dc.identifier.citedreferenceOber, C., Aldrich, C. L., Chervoneva, I. et al. ( 2003 ) Variation in the HLA-G promoter region influences miscarriage rates. Am J Hum Genet 72, 1425 – 1435.en_US
dc.identifier.citedreferenceRea, T. J., Brown, C. M. & Sing, C. F. ( 2006 ) Complex adaptive system models and the gene analysis of plasma HDL-Cholesterol concentration. Perspect Biol Med 49, 490 - 503.en_US
dc.identifier.citedreferenceRussell, B. ( 1945 ) A history of western philosophy, New York, NY : Simon and Schuster.en_US
dc.identifier.citedreferenceSchnohr, P., Jensen, G., Lange, P. et al. ( 2001 ) The Copenhagen City Heart Study. Tables with data from the third examination 1991-1994. Eur Heart J 3 ( Suppl H ), 1 – 83.en_US
dc.identifier.citedreferenceSing, C. F., StengÅrd, J. H. & Kardia, S. L. R. ( 2004 ) Dynamic relationships between the genome and exposures to environments as causes of common human diseases. In : Nutrigenetics and Nutrigenomics (World Review of Nutrition and Dietetics) eds A.P. Simopoulos & J.M. Ordovas, vol 93 ; pp 77 – 91. Switzerland : Karger.en_US
dc.identifier.citedreferenceSokal, R. R. & Rohlf, F. J. ( 1995 ) Biometry: the principles and practice of statistics in biological research ( 3rd ed ), New York, NY : WH Freeman and Company.en_US
dc.identifier.citedreferenceSong, Y., Stampfer, M. J. & Liu, S. ( 2004 ) Meta-analysis: apolipoprotein e genotypes and risk for coronary heart disease. Ann Intern Med 141, 137 – 147.en_US
dc.identifier.citedreferenceSposito, A.C., Gonbert, S., Turpin, G. et al. ( 2004 ) Common promoter C516T polymorphism in the ApoB gene is an independent predictor of carotid atherosclerotic disease in subjects presenting a broad range of plasma cholesterol levels. Arterioscler Thromb Vasc Biol 24, 2192 – 2195.en_US
dc.identifier.citedreferenceSteinberg, D. ( 2004 ) An interpretive history of the cholesterol controversy: part 1. J Lipid Res 45, 1583 – 1593.en_US
dc.identifier.citedreferenceStengÅrd, J. H., Clark, A. G., Weiss, K. M. et al. ( 2002 ) Contributions of 18 additional DNA sequence variations in the gene encoding apolipoprotein E to explaining variation in quantitative measures of lipid metabolism. Am J Hum Genet S71, 501 – 517.en_US
dc.identifier.citedreferenceStengÅrd, J. H., Kardia, S. L. R., Hamon, S. C. et al. ( 2006 ) Contribution of regulatory and structural variations in APOE to predicting dyslipidemia. J Lipid Res 47, 318 – 328.en_US
dc.identifier.citedreferenceStengÅrd, J. H., Kardia, S. L. R., Tervahauta, M. et al. ( 1999 ) Utility of the predictors of coronary heart disease mortality in a longitudinal study of elderly Finnish men aged 65 to 84 years is dependent on context defined by Apo E genotype and area of residence. Clin Genet 56, 367 - 377.en_US
dc.identifier.citedreferenceStengÅrd, J. H., Zerba, K. E., Pekkanen, J. et al. ( 1995 ) Apolipoprotein E polymorphism predicts death from coronary heart disease in a longitudinal study of elderly Finnish men. Circulation 91, 265 – 269.en_US
dc.identifier.citedreferenceTalmud, P. J., Stephens, J. W., Hawe, E. et al. ( 2005 ) The significant increase in cardiovascular disease risk in APOE ε4 carriers is evident only in men who smoke: Potential relationship between reduced antioxidant status and ApoE4. Ann Hum Genet 69, 1 – 10.en_US
dc.identifier.citedreferenceUtermann, G., Hees, M. & Steinmetz, A. ( 1977 ) Polymorphism of apolipoprotein E and occurrence of dysbetalipoproteinemia in man. Nature 269, 604 – 607.en_US
dc.identifier.citedreferencevan Asselt, K. M., Kok, H. S., van der Schouw, Y. T. et al. ( 2006 ) Role of genetic analyses in cardiology: Part II: Heritability estimation for gene searching in multifactorial diseases. Circulation 113, 1136 – 1139.en_US
dc.identifier.citedreferenceViiri, L.E., Loimaala, A., Nenonen, A. et al. ( 2005 ) The association of the apolipoprotein E gene promoter polymorphisms and haplotypes with serum lipid and lipoprotein concentrations. Atherosclerosis 179, 161 – 167.en_US
dc.identifier.citedreferenceViitanen, L., PihlajamÄki, J., Miettinen, R. et al. ( 2001 ) Apolipoprotein E gene promoter (-219G/T) polymorphism is associated with premature coronary heart disease. J Mol Med 79, 732 – 737.en_US
dc.identifier.citedreferenceYe, S., Dunleavey, L., Bannister, W. et al. ( 2003 ) Independent effects of the -219G > T and ε2/ε3/ε4 polymorphisms in the apolipoprotein E gene on coronary artery disease: the Southampton Atherosclerosis Study. Eur J Hum Genet 11, 437 – 443.en_US
dc.owningcollnameInterdisciplinary and Peer-Reviewed


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