HFE mutations in heart disease

Heart and Vessels

Volumn 23, Issue 5, 2008, Pages 348-355

  Dunn, Terence ^a   Blankenship, Derek ^b,d   Beal, Nicole ^a   Allen, Richard ^a   Schechter, Eliot ^a   Moore, William ^b   Perveen, Ghazala ^c   Eichner, June ^b  

^a UNIVERSITY OF OKLAHOMA COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY OF OKLAHOMA HEALTH SCIENCES CENTER   (United States)

^c KANSAS DEPARTMENT OF HEALTH AND ENVIRONMENT   (United States)

^d BAYLOR HEALTH CARE SYSTEM   (United States)

Author keywords

Cardiomyopathy; Coronary artery disease; Heart disease; Hemochromatosis; HFE gene

Indexed keywords

FERRITIN; HFE PROTEIN; TRANSFERRIN;

ADULT; ALLELE; ANGIOCARDIOGRAPHY; ARTICLE; CARDIOMYOPATHY; CARDIOVASCULAR DISEASE; CONTROLLED STUDY; CORONARY ARTERY DISEASE; FEMALE; FERRITIN BLOOD LEVEL; GENE MUTATION; GENETIC ASSOCIATION; GENOTYPE; HEART DISEASE; HEMOCHROMATOSIS; HUMAN; ISCHEMIC HEART DISEASE; MAJOR CLINICAL STUDY; MALE; MORTALITY; PATHOPHYSIOLOGY; PRIORITY JOURNAL; PROTEIN FUNCTION; TRANSFERRIN BLOOD LEVEL;

ADULT; AGED; AGED, 80 AND OVER; DNA; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HEART DISEASES; HISTOCOMPATIBILITY ANTIGENS CLASS I; HUMANS; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MUTATION; POLYMERASE CHAIN REACTION; PROGNOSIS; RETROSPECTIVE STUDIES;

EID: 53149102851     PISSN: 09108327     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00380-008-1047-8     Document Type: Article

References (53)

1. Hanson EH, Imperatore G, Burke W (2001) HFE gene and hereditary hemochromatosis: A HuGE review. Am J Epidemiol 154: 193-206
2. Fairbanks VF, Brandhagen DJ, Thibodeau SN, Snow K, Wollan PC (1998) H63D is an haemochromatosis associated allele. Gut 43:441-442
3. Steinberg KK, Cogswell ME, Chang JC, Caudill SP, McQuillan, Bowman BA, Grummer-Strawn LM, Sampson EJ, Khoury MJ, Gallagher ML (2001) Prevalence of C282Y and H63D mutations in the hemochromatosis (HFE) gene in the United States. JAMA 285:2216-2222
4. Mura C, Raguenes O, Ferec C (1999) HFE mutation analysis in 711 hemochromatosis probands: Evidence for S65C implication in mild form of hemochromatosis. Blood 93:2502-2505
5. Adams PC, Chakrabarti S (1998) Genotypic/phenotypic correlations in genetic hemochromatosis: Evolution of diagnostic criteria. Gastroenterology 114:319-323
6. Weinberg ED (1999) Iron loading and disease surveillance. Emerg Infect Dis 5:346-352
7. Witte DL, Crosby WH, Edwards CQ, Fairbanks VF, Mitros FA (1996) Practice guideline development task force of the College of American Pathologists. Hereditary hemochromatosis. Clin Chim Acta 245:139-200
8. Fargion F, Mandelli C, Piperno A, Cesana B, Fracanzani AL, Fraquelli M, Bianchi PA, Fiorelli G, Conte D (1992) Survival and prognostic factors in 212 Italian patients with genetic hemochromatosis. Hepatology 15:655-659
9. Rosenqvist M Hultcrantz R (1989) Prevalence of haemochromatosis among men with clinically significant bradyarrythmias. Eur Heart J 10:473-478
10. Niederau C (2000) Iron overload and atherosclerosis. Hepatology 32:672-674
11. Salonen JT, Nyyssonen K, Korpela H, Tuomilehto J, Seppanen R, Salonen R (1992) High stored iron levels are associated with excess risk of myocardial infarction in eastern Finnish men. Circulation 86:803-811
12. Tuomainen TP, Punnonen K, Nyyssonen K, Salonen JT (1998) Association between body iron stores and the risk of acute myocardial infarction in men in eastern Finland. Circulation 97: 1461-1466
13. Tuomainen TP, Kontula K, Nyyssonen K, Lakka TA, Helio T, Salonen JT (1999) Increased risk of acute myocardial infarction in carriers of the hemochromatosis gene Cys282Tyr mutation: A prospective cohort study in men in eastern Finland. Circulation 100:1274-1279
14. Roest M, van der Schouw YT, de Valk B, Marx JJ, Tempelman MJ, de Groot PG, Sixma JJ, Banga JD (1999) Heterozygosity for a hereditary hemochromatosis gene is associated with cardiovascular death in women. Circulation 100:1268-1273
15. Failla M, Giannattasio C, Piperno A, Vergani A, Grappiolo A, Gentile G, Meles E, Mancia G (2000) Radial artery wall alterations in genetic hemochromatosis before and after iron depletion therapy. Hepatology 32:569-573
16. Rasmussen ML, Folsom AR, Catellier DJ, Tsai MY, Garg U, Eckfeldt JH (2001) A prospective study of coronary artery disease and the hemochromatosis gene (HFE) C282Y mutation: The Atherosclerosis Risk in Communities (ARIC) study. Atherosclerosis 154:739-746
17. Sempos CT, Looker AC, Gillum RF, Makuc DM (1994) Body iron stores and the risk of coronary heart disease. N Engl J Med 330:1119-1124
18. Kiechl S, Willeit J, Egger G, Poewe W, Oberhollenzer F (1997) Body iron stores and the risk of carotid atherosclerosis: Prospective results from the Bruneck Study. Circulation 96:3300-3307
19. Liao Y, Cooper RS, McGee DL (1994) Iron status and coronary heart disease: Negative findings from the NHANES I Epidemiological Follow-up Study. Am J Epidemiol 139:704-712
20. Gillum RF, Sempos CT, Makuc DM, Looker AC, Chien C, Ingram DD (1996) Serum transferrin saturation, stroke incidence, and mortality in women and men: The NHANES I Epidemiological Follow-up Study. Am J Epidemiol 144:59-68
21. deValk B, Marx JJM (1999) Iron, arherosclerosis, and ischaemic disease. Arch Intern Med 159:1542-1548
22. Candore G, Balistreri CR, Lio D, Mantovani V, Colonna-Romano G, Chiappelli M, Tampieri C, Licastro F, Branzi A, Averna M, Caruso M, Hoffmann E, Caruso C (2003) Association between HFE mutations and acute myocardial infarction: A study in patients from Northern and Southern Italy. Blood Cells Mol Dis 31:57-62
23. Ellervik C, Tybjærg-Hansen A, Grande P, Appleyard M, Nordestgaard BG (2005) Hereditary hemochromatosis and risk of ischemic heart disease: a prospective study and a case-control study. Circulation 112:185-193
24. Bienertova-Vasku JA, Vasku OHA (2007) Are common leptin promoter polymorphisms associated with restenosis after coronary stenting? Heart Vessels 22:310-315
25. Tangurek B, Ozer N, Sayar N, Terzi S, Yilmaz H, Dayi SU, Ciloglu F, Aksu H, Asilturk R, Cagil A (2006) The relationship between endothelial nitric oxide synthase gene polymorphism (T-786 C) and coronary artery disease in the Turkish population. Heart Vessels 21:285-290
26. Chua AC, Graham RM, Trinder D, Olynyk JK (2007) The regulation of cellular iron metabolism. Crit Rev Clin Lab Sci 44: 413-459
27. Eichner JE, Christiansen VJ, Moore WE, Dunn ST, Schechter E (2001) Angiotensin-converting enzyme gene polymorphism in a cohort of coronary angiography patients. Atherosclerosis 154:673-679
28. Eichner JE, Qi H, Moore WE, Schechter E (1998) Iron measures in coronary angiography patients. Atherosclerosis 136:241-245
29. Beutler E, Gelbart T, West C, Lee P, Adams M, Blackstone R, Pockros P, Kosty M, Venditti CP, Phatak PD, Seese NK, Chorney KA, Ten Elshof AE, Gerhard GS, Chorney M (1996) Mutation analysis in hereditary hemochromatosis. Blood Cells Mol Dis 22:187-194
30. Center for Disease Control, Office of Genomics and Disease Prevention (OGDP) http://www.cdc.gov/genomics/gtesting/ACCE/FBR/HH/HHCliVal.htm
31. Adams PC, Reboussin DM, Darton JC, McLaren CE, Eckfledt JH, McLaren GD, Eckfledt JH, McLaren GD, Dawkins FW, Acton RT, Harris EL, Gordeuk VR, Leiendecker-Foster C, Speechley M, Snively BM, Holup JL, Thomson E, Sholinsky P (2005) Hemochromatosis and iron-overload screening in a racially diverse study. N Engl J Med 352:1741-1744
32. MacDonald HB (1993) High stored iron levels are associated with excess risk of myocardial infarction in eastern Finnish men. Circulation 87:2063-2064
33. Waalen J, Felitti V, Gelbart T, Ho NJ, Beutler E (2002) Prevalence of coronary heart disease associated with HFE mutations in adults attending a health appraisal center. Am J Med 113:472-479
34. Hetet G, Elbaz A, Gariepy J, Nicaud V, Arveiler D, Morrison C, Kee F, Evans A, Simon A, Amarenco P, Cambien F, Grandchamp B (2001) Association studies between haemochromatosis gene mutations and the risk of cardiovascular diseases. Eur J Clin Invest 31:382-388
35. Campbell S, George DK, Robb SD, Spooner R, McDonagh TA, Dargie HJ, Mills PR (2003) The prevalence of haemochromatosis gene mutations in the West of Scotland and their relation to ischaemic heart disease. Heart 89:1023-1026
36. Gunn IR, Maxwell FK, Gaffney D, McMahon AD, Packard CJ (2004) Haemochromatosis gene mutations and risk of coronary heart disease: A west of Scotland coronary prevention study (WOSCOPS) substudy. Heart 90:304-306
37. Franco RF, Zago MA, Trip MD, ten Cate H, van den Ende A, Prins MH, Kastele JJ, Reitsma PH (1998) Prevalence of hereditary haemochromatosis in premature atherosclerotic vascular disease. Br J Haematol 102:1172-1175
38. Calado RT, Franco RF, Pazin-Filho A, Simoes MV, Marin-Neto JA, Zago MA (2000) HFE gene mutations in coronary atherothrombotic disease. Braz J Med Biol Res 33:301-306
39. Ellervik C, Birgens H, Tybjaerg-Hansen A, Nordestgaard BG (2007) Hemochromatosis genotypes and risk of 31 disease endpoints: meta-analysis including 66,000 cases and 226,000 controls. Hepatology 46:1071-1080
40. Claeys D, Walting M, Julmy F, Wuillemin WA, Meyer BJ (2002) Hemochromatosis mutations and ferritin in myocardial infarction: A case-control study. Eur J Clin Invest 32:3-8
41. Finch SC, Finch CA (1955) Idiopathic hemochromatosis, an iron storage disease: A. Iron metabolism in hemochromatosis. Medicine (Baltimore) 34:381-430
42. MacDonald RA, Mallory GK (1960) Hemochromatosis and hemosiderosis; study of 211 autopsied cases. Arch Intern Med 105:686
43. Milder MS, Cook JD, Stray S, Finch CA (1980) Idiopathic hemochromatosis, an interim report. Medicine 59:34-49
44. Strohmeyer G, Niederau C, Stremmel W (1988) Survival and causes of death in hemochromatosis. Observations in 163 patients. Ann N Y Acad Sci 526:245-257
45. Adams PC, Speechley M, Kertesz AE (1991) Long-term survival analysis in hereditary hemochromatosis. Gastroenterology 101: 368-374
46. Mahon NG, Coonar AS, JeVery S, Coccolo F, Akiyu J, Zal B, Houlston R, Levin GE, Baboonian C, McKenna WJ (2000) Haemochromatosis gene mutations in idiopathic dilated cardiomyopathy. Heart 84:541-547
47. Pereira AC, Cuoco MA, Mota GF, da Silva FF, Freitas HF, Bocchi EA, Soler JM, Mansur AJ, Krieger JE (2001) Hemochromatosis gene variants in patients with cardiomyopathy. Am J Cardiol 88: 388-391
48. Hetet G, Grandchamp B, Bouchier C, Nicaud V, Tiret L, Roizes G, Desnos M, Schwartz K, Dorent R, Komajda M, CARDIGENE Group (2001) Idiopathic dilated cardiomyopathy: Lack of association with haemochromatosis gene in the CARDIGENE study. Heart 86:702-703
49. Goland S, Beilinson N, Kaftouri A, Shimoni S, Caspi A, Malnick SD (2004) Hemochromatosis mutations are not linked to dilated cardiomyopathy in Israeli patients. Eur J Heart Fail 6: 547-550
50. Hannuksela J, Leppilampi M, Peuhkurinen K, Karkkainen S, Saastamoinen E, Helio T, Kaartinen M, Nieminen MS, Nieminen P, Parkkila S (2005) Hereditary hemochromatosis gene (HFE) mutations C282Y, H63D and S65C in patients with idiopathic dilated cardiomyopathy. Eur J Heart Fail 7:103-108
51. Phatak PD, Ryan DH, Cappuccio J, Oakes D, Braggins C, Provenzano K, Eberly S, Sham RL (2002) Prevalence and penetrance of HFE mutations in 4865 unselected primary care patients. Blood Cells Mol Dis 29:41-47
52. Yang Q, McDonnell SM, Khoury MJ, Cono J, Parrish RG (1998) Hemochromatosis-associated mortality in the United States from 1979 to 1992: An analysis of multiple-cause mortality data. Ann Intern Med 129:946-953
53. Miller M, Hutchins GM (1994) Hemochromatosis, multiorgan hemosiderosis, and coronary artery disease. JAMA 272:231-233