Apolipoprotein E ε4 allele as a genetic risk factor for left ventricular failure in homozygous β-thalassemia

Blood

Volumn 92, Issue 9, 1998, Pages 3455-3459

  Economou Petersen, Effrosini ^a   Aessopos, Athanassios ^b   Kladi, Athina ^b   Flevari, Panagiota ^b   Karabatsos, Fotis ^b   Fragodimitri, Christina ^b   Nicolaidis, Peter ^b   Vrettou, Helen ^b   Vassilopoulos, Dimitris ^b   Karagiorga Lagana, Markissia ^b   Kremastinos, Dimitrios Th ^b   Petersen, Michael B ^b  

^a RED CROSS HOSPITAL   (Greece)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

APOLIPOPROTEIN E4; FERRITIN; OXYGEN RADICAL; APOLIPOPROTEIN E; IRON; REACTIVE OXYGEN METABOLITE;

ADOLESCENT; ADULT; ANTIOXIDANT ACTIVITY; ARTICLE; CHILD; CONTROLLED STUDY; FEMALE; GENE FREQUENCY; GENE LOCUS; GENETIC POLYMORPHISM; GENETIC RISK; GREECE; HEART DILATATION; HEART LEFT VENTRICLE FAILURE; HUMAN; IRON STORAGE; MAJOR CLINICAL STUDY; MALE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RISK FACTOR; THALASSEMIA MAJOR; ALLELE; BETA THALASSEMIA; BLOOD TRANSFUSION; CHELATION THERAPY; CHROMOSOME 19; COMPARATIVE STUDY; CONGESTIVE HEART FAILURE; ETHNOLOGY; GENETIC PREDISPOSITION; GENETICS; HEART LEFT VENTRICLE FUNCTION; HOMOZYGOTE; HOSPITALIZATION; MIDDLE AGED; OXIDATION REDUCTION REACTION; OXIDATIVE STRESS;

ADOLESCENT; ADULT; ALLELES; APOLIPOPROTEIN E4; APOLIPOPROTEINS E; BETA-THALASSEMIA; BLOOD TRANSFUSION; CHELATION THERAPY; CHILD; CHROMOSOMES, HUMAN, PAIR 19; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GREECE; HEART FAILURE, CONGESTIVE; HOMOZYGOTE; HUMANS; IRON; MALE; MIDDLE AGED; OXIDATION-REDUCTION; OXIDATIVE STRESS; POLYMORPHISM, GENETIC; REACTIVE OXYGEN SPECIES; RISK FACTORS; SEVERITY OF ILLNESS INDEX; VENTRICULAR DYSFUNCTION, LEFT;

EID: 0032194956     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v92.9.3455     Document Type: Article

References (38)

1. Kan YW, Dozy AM: Polymorphism of DNA sequence adjacent to human β-globin structural gene: Relationship to sickle mutation. Proc Natl Acad Sci USA 75:5631, 1978
2. Boehm CD, Antonarakis SE, Phillips JA, Stetten G, Kazazian HH Jr: Prenatal diagnosis using DNA polymorphisms. Report on 95 pregnancies at risk for sickle-cell disease or β-thalassemia. N Engl J Med 308:1054, 1983
3. Pirastu M, Kan YW, Cao A, Conner BJ. Teplitz RL, Wallace RB: Prenatal diagnosis of β-thalassemia. Detection of a single nucleotide mutation in DNA. N Engl J Med 309:284, 1983
4. Weatherall DJ, Clegg JB, Higgs DR, Wood WG: The hemoglobinopathies, in Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The Metabolic and Molecular Bases of Inherited Disease, (ed 7). New York, NY, McGraw-Hill, 1995, p 3417
5. Sapoznikov D, Lewis N, Rachmilewitz EA, Gotsman MS, Lewis BS: Left ventricular filling and emptying patterns in anemia due to beta-thalassemia: A computer-assisted echocardiographic study, Cardiology 69:276, 1982
6. Lau KC, Li AMC, Hui PW, Yeung CY: Left ventricular function in β-thalassemia major. Arch Dis Child 64:1046, 1989
7. Olivieri NF, Nathan DG, MacMillan JH, Wayne AS, Liu PP, McGee A, Martin M, Koren G, Cohen AR: Survival in medically treated patients with homozygous β-thalassemia. N Engl J Med 331:574, 1994
8. Freeman AP, Giles RW, Berdoukas VA, Walsh WF, Choy D, Murray PC: Early left ventricular dysfunction and chelation therapy in thalassemia major, Ann Intern Med 99:450, 1983
9. Wolfe L, Olivieri N, Sallan D, Colan S, Rose V, Propper R, Freedman MH, Nathan DG: Prevention of cardiac disease by subcutaneous deferoxamine in patients with thalassemia major. N Engl J Med 312:1600, 1985
10. Marcus RE, Davies SC, Bantock HM, Underwood SR, Walton S, Huehns ER: Desferrioxamine to improve cardiac function in ironoverloaded patients with thalassaemia major. Lancet 1:392, 1984
11. Mahley RW: Apolipoprotein E: Cholesterol transport protein with expanding role in cell biology. Science 240:622, 1988
12. Strittmatter WJ, Saunders AM, Schmechel D, Pericak-Vance M, Enghild J, Salvesen GS, Roses AD: Apolipoprotein E: High-avidity binding to β-amyloid and increased frequency of type 4 allele in late-onset familial Alzheimer disease. Proc Natl Acad Sci USA 90:1977, 1993
13. Zunnis VI, Breslow JL, Utermann G, Mahley RW, Weisgraber KH, Havel RJ, Goldstein JL, Brown MS, Schonfeld G, Hazzard WR, Slum C: Proposed nomenclature of apoE isoproteins, apoE genotypes, and phenotypes. J Lipid Res 23:911, 1982
14. Miyata M, Smith JD: Apolipoprotein E allele-specific antioxidant activity and effects on cytotoxicity by oxidative insults and β-amyloid peptides. Nat Genet 14:55, 1996
15. Sahn DJ, De Maria A, Kisslo J, Weyman A: The committee on M-mode standardization of the American Society of Echocardiography: Results of a survey of echocardiographic measurements. Circulation 58:1072, 1978
16. Schiller NB, Shah PM, Crawford M, DeMaria A, Devereux R, Fligenbaum H, Gutgesell H, Reicher N, Sahn D, Schnittger I, Silverman NH, Tajih AJ: Recommendations for quantitation of the left ventricle by two-dimensional echocardiography: American Society of Echocardiography Committee on Standards, Subcommittee un Quantitation of Two-Dimensional Echocardiography. J Am Soc Echocardiogr 2:358, 1989
17. Crisaru D, Rachmilewitz EA, Mosseri M, Gotsman M, Latair JS, Okon E, Goldfard A, Hasin Y: Cardiopulmonary assessment in β-thalassemia major. Chest 98:1138, 1990
18. Aessopos A, Stamatelos G, Skoumas V, Vassilopoulos G, Mantzourani M, Loukopoulos D: Pulmonary hypertension and right ventricle failure in patients with beta-thalassemia intermedia. Chest 107:50, 1995
19. Miller SA, Dykes DD, Polesky HF: A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215, 1988
20. Wenham PR, Price WH, Blundell G: Apolipoprotein E genotyping by one-stage PCR. Lancet 337:1158, 1991
21. Avramopoulos D, Mikkelsen M, Vassilopoulos D, Grigoriadou M, Petersen MB: Apolipoprotein E allele distribution in parents of Down's syndrome children. Lancet 347:862, 1996
22. Sklavounou E, Economou-Petersen E, Karadima G, Panas M, Avramopoulos D, Varsou A, Vassilopoulos D, Petersen MB: Apolipoprotein E polymorphism in the Greek population. Clin Genet 52:216, 1997
23. Leon MB, Borer JS, Bacharach SL, Green MV, Benz EJ Jr, Griffith P, Nienhuis AW: Detection of early cardiac dysfunction in patients with severe beta-thalassemia and chronic iron overload. N Engl J Med 301:1143, 1979
24. Brittenham GM, Griffith PM, Nienhuis AW, McLaren CE, Young NS, Tucker EE, Alien CJ, Farrell DE, Harris JW: Efficacy of deferoxamine in preventing complications of iron overload in patients with thalassemia major. N Engl J Med 331:567, 1994
25. Halliwell B: The role of oxygen radicals in human disease, with particular reference to the vascular system. Haemostasis 23:118, 1993 (suppl 1)
26. Kukreja RC, Hess ML: The oxygen free radical system: From equations through membrane-protein interactions to cardiovascular injury and protection. Cardiovasc Res 26:641, 1992
27. Kremastinos DTh, Tiniakos G, Theodorakis GN, Katritsis DG, Toutouzas PK: Myocarditis in β-thalassemia major: A cause of heart failure. Circulation 91:66. 1995
28. Hiraoka Y, Kishimoto C, Takada H, Kurokawa M, Ochiai H, Shiraki K, Sasayama S: Role of oxygen derived free radicals in the pathogenesis of coxsackievirus B3 myocarditis in mice. Cardiovasc Res 27:957, 1993
29. Suzuki H, Matsumori A, Matoba Y, Kyu BS, Tanaka A, Fujita J, Sasayama S: Enhanced expression of Superoxide dismutase messenger RNA in viral myocarditis. An SH-dependent reduction of its expression and myocardial injury. J Clin Invest 91:2727, 1993
30. Roses AD: Apolipoprotein E genotyping in the differential diagnosis, not prediction, of Alzheimer's disease. Ann Neurol 38:6, 1995
31. National Institute on Aging/Alzheimer's Association Working Group: Apolipoprotein E genotyping in Alzheimer's disease. Lancet 347:1091, 1996
32. Davignon J, Gregg RE, Sing CF: Apolipoprotein E polymorphism and atherosclerosis. Arteriosclerosis 8:1, 1988
33. Cariolou MA, Kakkofitou A, Manoli P, Christou S, Karagrigoriou A, Middleton L: Underexpression of the apolipoprotein E2 and E4 alleles in the Greek Cypriot population of Cyprus. Genet Epidemiol 12:489, 1995
34. Estivill X: Complexity in a monogenic disease. Nat Genet 12:348, 1996
35. Houlston RS, Tomlinson IPM: Modifier genes in humans: Strategies for identification. Eur J Hum Genet 6:80, 1998
36. Martin GM, Austad SN, Johnson TE: Genetic analysis of ageing: Role of oxidative damage and environmental stresses. Nat Genet 13:25, 1996
37. Li Y, Huang T-T, Carlson EJ, Melov S, Ursell PC, Olson JL, Noble LJ, Yoshimura MP, Berger C, Chan PH, Wallace DC, Epstein CJ: Dilated cardiomyopathy and neonatal lethality in mutant mice lacking manganese Superoxide dismutase. Nat Genet 11:376, 1995
38. Brown PO, Hartwell L: Genomics and human diseasevariations on variation. Nat Genet 18:91, 1998