Document Detail

Investigation of the C242T polymorphism of NAD(P)H oxidase p22 phox gene and ischaemic heart disease using family-based association methods.
MedLine Citation:
PMID:  12877653     Owner:  NLM     Status:  MEDLINE    
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.
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
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Clinical science (London, England : 1979)     Volume:  105     ISSN:  0143-5221     ISO Abbreviation:  Clin. Sci.     Publication Date:  2003 Dec 
Date Detail:
Created Date:  2003-11-18     Completed Date:  2004-02-02     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7905731     Medline TA:  Clin Sci (Lond)     Country:  England    
Other Details:
Languages:  eng     Pagination:  677-82     Citation Subset:  IM    
Regional Medical Cardiology Centre, Royal Victoria Hospital, Grosvenor Road, Belfast, BT12 6BA, UK.
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MeSH Terms
Genetic Predisposition to Disease
Linkage Disequilibrium
Membrane Transport Proteins*
Middle Aged
Myocardial Ischemia / enzymology,  genetics*
NADH, NADPH Oxidoreductases / genetics*
NADPH Dehydrogenase / genetics*
NADPH Oxidase
Phosphoproteins / genetics*
Polymorphism, Genetic*
Reg. No./Substance:
0/Membrane Transport Proteins; 0/Phosphoproteins; EC 1.6.-/NADH, NADPH Oxidoreductases; EC protein, human; EC Oxidase; EC Dehydrogenase
Erratum In:
Clin Sci (Lond). 2004 Dec;107(6):631

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