Investigation of the C242T polymorphism of NAD(P)H oxidase p22 phox gene and ischaemic heart disease using family-based association methods

2004 ◽  
Vol 107 (6) ◽  
pp. 631-631
Author(s):  
M. S. SPENCE ◽  
P. G. McGLINCHEY ◽  
C. C. PATTERSON ◽  
A. R. ALLEN ◽  
G. MURPHY ◽  
...  
Keyword(s):  
Heart Disease ◽  
Ischaemic Heart Disease ◽  
C242t Polymorphism ◽  
Family Based ◽  
P22 Phox

Investigation of the C242T polymorphism of NAD(P)H oxidase p22 phox gene and ischaemic heart disease using family-based association methods

2003 ◽  
Vol 105 (6) ◽  
pp. 677-682 ◽  
Author(s):  
M. S. SPENCE ◽  
P. G. McGLINCHEY ◽  
C. C. PATTERSON ◽  
A. R. ALLEN ◽  
G. MURPHY ◽  
...  
Keyword(s):  
Heart Disease ◽  
Ischaemic Heart Disease ◽  
Case Control Studies ◽  
Association Tests ◽  
Pedigree Disequilibrium Test ◽  
C242t Polymorphism ◽  
Genetic And Environmental Factors ◽  
Family Based ◽  
P22 Phox

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.

scholarly journals The Matrix Metalloproteinase-3 (MMP-3) 5A/6A Promoter Polymorphism Is Not Associated with Ischaemic Heart Disease: Analysis Employing a Family Based Approach

2004 ◽  
Vol 20 (6) ◽  
pp. 289-294 ◽  
Author(s):  
Paul G. McGlinchey ◽  
Mark S. Spence ◽  
Chris C. Patterson ◽  
Adrian R. Allen ◽  
Gillian Murphy ◽  
...  
Keyword(s):  
Heart Disease ◽  
Matrix Metalloproteinase ◽  
Ischaemic Heart Disease ◽  
Promoter Polymorphism ◽  
Irish Population ◽  
Matrix Metalloproteinase 3 ◽  
The Matrix ◽  
Tests Of Association ◽  
Family Based ◽  
Atherosclerotic Process

Matrix metalloproteinase-3 (MMP-3) has been proposed as an important mediator of the atherosclerotic process. The possible role of the functional -1612 5A/6A polymorphism of the MMP-3 gene in the susceptibility to ischaemic heart disease (IHD) was investigated in a well-defined Irish population using two recently described family based tests of association. One thousand and twelve individuals from 386 families with at least one member prematurely affected with IHD were genotyped. Using the combined transmission disequilibrium test (TDT)/sib-TDT and the pedigree disequilibrium test (PDT), no association between the MMP-3 -1612 5A/6A polymorphism and IHD was found. Our data demonstrate that, in an Irish population, the MMP-3 -1612 5A/6A polymorphism is not associated with IHD.

Cytokine gene polymorphisms in ischaemic heart disease: investigation using family-based tests of association

2004 ◽  
Vol 82 (11) ◽  
pp. 756-761 ◽  
Author(s):  
Paul G. McGlinchey ◽  
Mark S. Spence ◽  
Chris C. Patterson ◽  
Adrian R. Allen ◽  
Gillian Murphy ◽  
...  
Keyword(s):  
Heart Disease ◽  
Ischaemic Heart Disease ◽  
Gene Polymorphisms ◽  
Cytokine Gene ◽  
Tests Of Association ◽  
Cytokine Gene Polymorphisms ◽  
Family Based

scholarly journals Lack of MEF2A Δ7aa mutation in Irish families with early onset ischaemic heart disease, a family based study

2006 ◽  
Vol 7 (1) ◽  
Author(s):  
Paul G Horan ◽  
Adrian R Allen ◽  
Anne E Hughes ◽  
Chris C Patterson ◽  
Mark Spence ◽  
...  
Keyword(s):  
Heart Disease ◽  
Ischaemic Heart Disease ◽  
Early Onset ◽  
Family Based

Family-based investigation of the C677T polymorphism of the methylenetetrahydrofolate reductase gene in ischaemic heart disease

2002 ◽  
Vol 165 (2) ◽  
pp. 293-299 ◽  
Author(s):  
Mark S. Spence ◽  
Paul G. McGlinchey ◽  
Chris C. Patterson ◽  
Christine Belton ◽  
Gillian Murphy ◽  
...  
Keyword(s):  
Heart Disease ◽  
Ischaemic Heart Disease ◽  
Methylenetetrahydrofolate Reductase ◽  
C677t Polymorphism ◽  
Reductase Gene ◽  
Family Based ◽  
Methylenetetrahydrofolate Reductase Gene

Lack of association between the -2518G/A polymorphism of the MCP-1 gene and ischaemic heart disease: a family-based investigation

2004 ◽  
Vol 64 (2) ◽  
pp. 199-203 ◽  
Author(s):  
P.G. McGlinchey ◽  
M.S. Spence ◽  
C.C. Patterson ◽  
A. R. Allen ◽  
G. Murphy ◽  
...  
Keyword(s):  
Heart Disease ◽  
Ischaemic Heart Disease ◽  
Family Based
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