Ischaemic heart disease is a complex phenotype arising from the interaction of genetic and environmental factors. Excessive production of reactive oxygen species leading to endothelial dysfunction is believed to be important in the pathogenesis of ischaemic heart disease. The NAD(P)H oxidase system generates superoxide anions in vascular cells; however, the role of the C242T polymorphism of the NAD(P)H oxidase p22 phox gene in ischaemic heart disease is unclear due to contradictory results from case-control studies. Consequently, we applied family-based association tests to investigate the role of this polymorphism in ischaemic heart disease in a well-defined Irish population. A total of 1023 individuals from 388 families (discordant sibships and parent/child trios) were recruited. Linkage disequilibrium between the polymorphism and ischaemic heart disease was tested using the combined transmission disequilibrium test (TDT)/sib-TDT (cTDT) and pedigree disequilibrium test (PDT). Both cTDT and PDT analyses found no statistically significant excess transmission of either allele to affected individuals (P=0.30 and P=0.28, respectively). Using robust family-based association tests specifically designed for the study of complex diseases, we found no evidence that the C242T polymorphism of the p22 phox gene has a significant role in the development of ischaemic heart disease in our population.
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December 2003
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Research Article|
December 01 2003
Investigation of the C242T polymorphism of NAD(P)H oxidase p22 phox gene and ischaemic heart disease using family-based association methods
M. S. SPENCE;
M. S. SPENCE
*Regional Medical Cardiology Centre, Royal Victoria Hospital, Grosvenor Road, Belfast, BT12 6BA, U.K.
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P. G. McGLINCHEY;
P. G. McGLINCHEY
*Regional Medical Cardiology Centre, Royal Victoria Hospital, Grosvenor Road, Belfast, BT12 6BA, U.K.
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C. C. PATTERSON;
C. C. PATTERSON
†Department of Epidemiology and Public Health, The Queen's University of Belfast, Grosvenor Road, Belfast, BT12 6BA, U.K.
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A. R. ALLEN;
A. R. ALLEN
‡Department of Medicine, Institute of Clinical Science, The Queen's University of Belfast, Grosvenor Road, Belfast BT12 6cs, U.K.
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G. MURPHY;
G. MURPHY
*Regional Medical Cardiology Centre, Royal Victoria Hospital, Grosvenor Road, Belfast, BT12 6BA, U.K.
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U. BAYRAKTUTAN;
U. BAYRAKTUTAN
‡Department of Medicine, Institute of Clinical Science, The Queen's University of Belfast, Grosvenor Road, Belfast BT12 6cs, U.K.
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D. G. FOGARTY;
D. G. FOGARTY
‡Department of Medicine, Institute of Clinical Science, The Queen's University of Belfast, Grosvenor Road, Belfast BT12 6cs, U.K.
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A. E. EVANS;
A. E. EVANS
†Department of Epidemiology and Public Health, The Queen's University of Belfast, Grosvenor Road, Belfast, BT12 6BA, U.K.
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P. P. McKEOWN
*Regional Medical Cardiology Centre, Royal Victoria Hospital, Grosvenor Road, Belfast, BT12 6BA, U.K.
Correspondence: Dr Pascal McKeown, Department of Medicine, Institute of Clinical Science, The Queen's University of Belfast, Grosvenor Road, Belfast BT12 6cs, U.K. (e-mail [email protected]).
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Publisher: Portland Press Ltd
Received:
March 25 2003
Revision Received:
June 27 2003
Accepted:
July 23 2003
Accepted Manuscript online:
July 23 2003
Online ISSN: 1470-8736
Print ISSN: 0143-5221
© 2003 The Biochemical Society
2003
Clin Sci (Lond) (2003) 105 (6): 677–682.
Article history
Received:
March 25 2003
Revision Received:
June 27 2003
Accepted:
July 23 2003
Accepted Manuscript online:
July 23 2003
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Citation
M. S. SPENCE, P. G. McGLINCHEY, C. C. PATTERSON, A. R. ALLEN, G. MURPHY, U. BAYRAKTUTAN, D. G. FOGARTY, A. E. EVANS, P. P. McKEOWN; Investigation of the C242T polymorphism of NAD(P)H oxidase p22 phox gene and ischaemic heart disease using family-based association methods. Clin Sci (Lond) 1 December 2003; 105 (6): 677–682. doi: https://doi.org/10.1042/CS20030108
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