Mutation in ABCA1 predicted risk of ischemic heart disease in the Copenhagen City Heart Study population

Journal of the American College of Cardiology

Volumn 46, Issue 8, 2005, Pages 1516-1520

  Frikke Schmidt, Ruth ^a   Nordestgaard, Børge G ^b,c   Schnohr, Peter ^c   Steffensen, Rolf ^d   Tybjærg Hansen, Anne ^a,c  

^a Rigshospitalet   (Denmark)

^b GENTOFTE UNIVERSITY HOSPITAL   (Denmark)

^c BISPEBJERG HOSPITAL   (Denmark)

^d HILLERØD HOSPITAL   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER A1; ANTIHYPERTENSIVE AGENT; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; INSULIN; ORAL ANTIDIABETIC AGENT;

ADULT; AGED; ARTICLE; BLOOD SAMPLING; COHORT ANALYSIS; CONFIDENCE INTERVAL; CONTROLLED STUDY; DIABETES MELLITUS; DNA POLYMORPHISM; FEMALE; FOLLOW UP; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE; HAZARD ASSESSMENT; HEART MUSCLE ISCHEMIA; HETEROZYGOTE; HUMAN; HYPERTENSION; INCIDENCE; MAJOR CLINICAL STUDY; MALE; MUTATION RATE; PREDICTION; PRIORITY JOURNAL; RISK FACTOR; SMOKING HABIT; TANGIER DISEASE;

ATP-BINDING CASSETTE TRANSPORTERS; CASE-CONTROL STUDIES; DENMARK; FEMALE; FOLLOW-UP STUDIES; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; MUTATION; MYOCARDIAL ISCHEMIA; RISK FACTORS;

EID: 26844536636     PISSN: 07351097     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jacc.2005.06.066     Document Type: Article

References (30)

1. C.J.L. Murray, A.D. Lopez Mortality by cause for eight regions of the world Global Burden of Disease Study Lancet 349 1997 1269 1276
2. J.L. Goldstein, H.H. Hobbs, M.S. Brown Familial hypercholesterolemia C.R. Scriver A.L. Beaudet W.S. Sly D. Valle The Metabolic and Molecular Bases of Inherited Disease 8th edition 2001 McGraw-Hill New York, NY 2863 2913
3. L. Wang, C. Fan, S.E. Topol, E.J. Topol, Q. Wang Mutation of MEF2A in an inherited disorder with features of coronary artery disease Science 302 2003 1578 1581
4. M. Bodzioch, E. Orso, J. Klucken The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease Nat Genet 22 1999 347 351
5. A. Brooks-Wilson, M. Marcil, S.M. Clee Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency Nat Genet 22 1999 336 345
6. S. Rust, M. Rosier, H. Funke Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1 Nat Genet 22 1999 352 355
7. A.R. Tall, J.L. Breslow, E.M. Rubin Genetic disorders affecting plasma high-density lipoproteins C.R. Scriver A.L. Beaudet D. Valle W.S. Sly The Metabolic and Molecular Bases of Inherited Disease 8th edition 2001 McGraw-Hill New York, NY 2915 2936
8. R. Frikke-Schmidt, B.G. Nordestgaard, B. Agerholm-Larsen, P. Schnohr, A. Tybjaerg-Hansen Context dependent and invariant associations between lipids, lipoproteins, and apolipoproteins, and apolipoprotein E genotype. A study of 9,060 women and men from the population at large J Lipid Res 41 2000 1812 1822
9. R. Frikke-Schmidt, B.G. Nordestgaard, G.B. Jensen, A. Tybjaerg-Hansen Genetic variation in ABC transporter A1 contributes to HDL-cholesterol in the general population J Clin Invest 114 2004 1343 1353
10. J.C. Cohen, R.S. Kiss, A. Pertsemlidis, Y.L. Marcel, R. McPherson, H.H. Hobbs Multiple rare alleles contribute to low plasma levels of HDL cholesterol Science 305 2004 869 872
11. A.R. Tanaka, S. Abe-Dohmae, T. Ohnishi Effects of Mutations of ABCA1 in the first extracellular domain on subcellular trafficking and ATP binding/hydrolysis J Biol Chem 278 2003 8815 8819
12. M.L. Fitzgerald, A.L. Morris, J.S. Rhee, L.P. Andersson, A.J. Mendez, M.W. Freeman Naturally occurring mutations in the largest extracellular loops of ABCA1 can disrupt its direct interaction with apolipoprotein A-I J Biol Chem 277 2002 33178 33187
13. A.R. Tanaka, Y. Ikeda, S. Abe-Dohmae Human ABCA1 contains a large amino-terminal extracellular domain homologous to an epitope of Sjogren's syndrome Biochem Biophys Res Commun 283 2001 1019 1025
14. S.M. Clee, A.H. Zwinderman, J.C. Engert Common genetic variation in ABCA1 is associated with altered lipoprotein levels and a modified risk for coronary artery disease Circulation 103 2001 1198 1205
15. M. Dean, M.B. White, J. Amos Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients Cell 61 1990 863 870
16. M. Appleyard, A.T. Hansen, G. Jensen, P. Schnohr, J. Nyboe The Copenhagen City Heart Study. Øesterbroundersøgelsen. A book of tables with data from the first examination (1976-1978) and a five year follow-up (1981-1983). The Copenhagen City Heart Study Group Scand J Soc Med 41 Suppl 1989 1 160
17. P. Schnohr, G. Jensen, P. Lange, H. Scharling, M. Appleyard The Copenhagen City Heart Study, Østerbroundersøgelsen, tables with data from the third examination 1991-1994 Eur Heart J 3 Suppl H 2001 1 83
18. J.P. Klein, M.L. Moeschberger Refinements of the semiparametric proportional hazards model Survival Analysis. Techniques for Censored and Truncated Data 2003 Springer-Verlag, Inc New York, NY 295 328
19. C. Serfaty-Lacrosniere, F. Civeira, A. Lanzberg Homozygous Tangier disease and cardiovascular disease Atherosclerosis 107 1994 85 98
20. G. Assman, A. von Eckardstein, H. Bryan Brewer Jr Familial analphalipoproteinemia Tangier disease C.R. Scriver A.L. Beaudet D. Valle W.S. Sly The Metabolic and Molecular Bases of Inherited Disease 8th edition 2001 McGraw-Hill New York, NY 2937 2960
21. M.F. Luciani, G. Chimini The ATP binding cassette transporter, ABC1, is required for engulfment of corpses generated by apoptotic cell death EMBO J 15 1996 226 235
22. M. Van Eck, I.S. Bos, W.E. Kaminski Leukocyte ABCA1 controls susceptibility to atherosclerosis and macrophage recruitment into tissues Proc Natl Acad Sci U S A 99 2002 6298 6303
23. C.W. Joyce, M.J. Amar, G. Lambert The ATP binding cassette transporter A1 (ABCA1) modulates the development of aortic atherosclerosis in C57BL/6 and apoE-knockout mice Proc Natl Acad Sci U S A 99 2002 407 412
24. G. Schmitz, C. Buechler ABCA1 regulation, trafficking and association with heteromeric proteins Ann Med 34 2002 334 347
25. N. Wang, W. Chen, P. Linsel-Nitschke A PEST sequence in ABCA1 regulates degradation by calpain protease and stabilization of ABCA1 by apoA-I J Clin Invest 111 2003 99 107
26. L.O. Martinez, B. Agerholm-Larsen, N. Wang, W. Chen, A.R. Tall Phosphorylation of a pest sequence in ABCA1 promotes calpain degradation and is reversed by apoA-I J Biol Chem 278 2003 37368 37374
27. C. Buechler, A. Boettcher, S.M. Bared, M.C. Probst, G. Schmitz The carboxyterminus of the ATP-binding cassette transporter A1 interacts with a beta2-syntrophin/utrophin complex Biochem Biophys Res Commun 293 2002 759 765
28. D.A. Tregouet, S. Ricard, V. Nicaud In-depth haplotype analysis of ABCA1 gene polymorphisms in relation to plasma apoA1 levels and myocardial infarction Arterioscler Thromb Vasc Biol 24 2004 775 781
29. S. Kakko, J. Kelloniemi, P. von Rohr ATP-binding cassette transporter A1 locus is not a major determinant of HDL-C levels in a population at high risk for coronary heart disease Atherosclerosis 166 2003 285 290
30. F.S. Collins The case for a US prospective cohort study of genes and environment Nature 429 2004 475 477