Literature DB >> 12923017

The prevalence of haemochromatosis gene mutations in the West of Scotland and their relation to ischaemic heart disease.

S Campbell1, D K George, S D Robb, R Spooner, T A McDonagh, H J Dargie, P R Mills.   

Abstract

OBJECTIVES: Excess iron stores have been postulated to enhance the risk of ischaemic heart disease. This study aims to determine whether the two major mutations of the haemochromatosis (HFE) gene (C282Y and H63D) are associated with ischaemic heart disease (IHD) or myocardial infarction (MI).
DESIGN: Cross sectional case-control study.
SETTING: The geographical area studied by the MONICA (monitoring trends and determinants in cardiovascular disease) heart attack register for North Glasgow in Scotland, UK. PATIENTS: 1009 control subjects chosen at random from general practitioner registers were studied. Additionally, 924 subjects who had survived a first MI sustained between 1985 and 1992 were identified from the MONICA register. MAIN OUTCOME MEASURES: C282Y and H63D mutations, previous MI, and presence or absence of IHD.
RESULTS: Mutant gene prevalences in the whole control population were as follows: C282Y: homozygote 0.9%, heterozygote 17.7%; H63D: homozygote 2.1%, heterozygote 25.5%; and compound heterozygote: 2.4%. Analysis by chi(2) test and logistic regression analysis did not identify any significant difference in genotype prevalence between normal control, IHD control, and MI survivor groups.
CONCLUSIONS: The C282Y homozygote and heterozygote prevalences are among the highest reported worldwide. No association between IHD or MI and HFE genotype was identified. However, these results need to be interpreted in the light of the cross sectional case-control nature of the study.

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Year:  2003        PMID: 12923017      PMCID: PMC1767801          DOI: 10.1136/heart.89.9.1023

Source DB:  PubMed          Journal:  Heart        ISSN: 1355-6037            Impact factor:   5.994


  22 in total

1.  Global prevalence of putative haemochromatosis mutations.

Authors:  A T Merryweather-Clarke; J J Pointon; J D Shearman; K J Robson
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2.  A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis.

Authors:  J N Feder; A Gnirke; W Thomas; Z Tsuchihashi; D A Ruddy; A Basava; F Dormishian; R Domingo; M C Ellis; A Fullan; L M Hinton; N L Jones; B E Kimmel; G S Kronmal; P Lauer; V K Lee; D B Loeb; F A Mapa; E McClelland; N C Meyer; G A Mintier; N Moeller; T Moore; E Morikang; C E Prass; L Quintana; S M Starnes; R C Schatzman; K J Brunke; D T Drayna; N J Risch; B R Bacon; R K Wolff
Journal:  Nat Genet       Date:  1996-08       Impact factor: 38.330

3.  MENDELIAN PROPORTIONS IN A MIXED POPULATION.

Authors:  G H Hardy
Journal:  Science       Date:  1908-07-10       Impact factor: 47.728

4.  A simple genetic test identifies 90% of UK patients with haemochromatosis. The UK Haemochromatosis Consortium.

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Journal:  Gut       Date:  1997-12       Impact factor: 23.059

5.  Genetic hemochromatosis, a Celtic disease: is it now time for population screening?

Authors:  V Byrnes; E Ryan; S Barrett; P Kenny; P Mayne; J Crowe
Journal:  Genet Test       Date:  2001

6.  Increased risk of acute myocardial infarction in carriers of the hemochromatosis gene Cys282Tyr mutation : a prospective cohort study in men in eastern Finland.

Authors:  T P Tuomainen; K Kontula; K Nyyssönen; T A Lakka; T Heliö; J T Salonen
Journal:  Circulation       Date:  1999-09-21       Impact factor: 29.690

7.  A prospective study of coronary heart disease and the hemochromatosis gene (HFE) C282Y mutation: the Atherosclerosis Risk in Communities (ARIC) study.

Authors:  M L Rasmussen; A R Folsom; D J Catellier; M Y Tsai; U Garg; J H Eckfeldt
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8.  HFE gene mutations in coronary atherothrombotic disease.

Authors:  R T Calado; R F Franco; A Pazin-Filho; M V Simões; J A Marin-Neto; M A Zago
Journal:  Braz J Med Biol Res       Date:  2000-03       Impact factor: 2.590

9.  Sex differences in myocardial infarction and coronary deaths in the Scottish MONICA population of Glasgow 1985 to 1991. Presentation, diagnosis, treatment, and 28-day case fatality of 3991 events in men and 1551 events in women.

Authors:  H Tunstall-Pedoe; C Morrison; M Woodward; B Fitzpatrick; G Watt
Journal:  Circulation       Date:  1996-06-01       Impact factor: 29.690

10.  Prevalence of hereditary haemochromatosis in premature atherosclerotic vascular disease.

Authors:  R F Franco; M A Zago; M D Trip; H ten Cate; A van den Ende; M H Prins; J J Kastelein; P H Reitsma
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  8 in total

1.  The origin and spread of the HFE-C282Y haemochromatosis mutation.

Authors:  S Distante; K J H Robson; J Graham-Campbell; A Arnaiz-Villena; P Brissot; Mark Worwood
Journal:  Hum Genet       Date:  2004-09       Impact factor: 4.132

2.  Heteroduplex analysis for the three common HFE variants: methodology, reliability and analysis of over 5000 requests for testing.

Authors:  Jeanne Kingston; Derrick Bowen; Marion Sweeney; Susan Lawless; Helen Jackson; Mark Worwood
Journal:  J Clin Pathol       Date:  2006-11-01       Impact factor: 3.411

3.  HFE mutations in heart disease.

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4.  HFE gene mutations increase the risk of coronary heart disease in women.

Authors:  M Carolina Pardo Silva; Omer T Njajou; Behrooz Z Alizadeh; Albert Hofman; Jacqueline C M Witteman; Cornelia M van Duijn; A Cecile J W Janssens
Journal:  Eur J Epidemiol       Date:  2010-07-18       Impact factor: 8.082

5.  Frequency of mutations related to hereditary haemochromatosis in northwestern Poland.

Authors:  Joanna Raszeja-Wyszomirska; Grzegorz Kurzawski; Janina Suchy; Iwona Zawada; Jan Lubinski; Piotr Milkiewicz
Journal:  J Appl Genet       Date:  2008       Impact factor: 3.240

Review 6.  Iron and thrombosis.

Authors:  Massimo Franchini; Giovanni Targher; Martina Montagnana; Giuseppe Lippi
Journal:  Ann Hematol       Date:  2007-12-08       Impact factor: 3.673

7.  Investigation of 89 candidate gene variants for effects on all-cause mortality following acute coronary syndrome.

Authors:  Thomas M Morgan; Lan Xiao; Patrick Lyons; Bethany Kassebaum; Harlan M Krumholz; John A Spertus
Journal:  BMC Med Genet       Date:  2008-07-12       Impact factor: 2.103

8.  Management of cardiac hemochromatosis.

Authors:  Wilbert S Aronow
Journal:  Arch Med Sci       Date:  2017-06-30       Impact factor: 3.318

  8 in total

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