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A novel molecular marker for endothelin - A receptor gene - lack of association between G1354C polymorphism and arterial disease in males
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Abstract
Material and methods. In the study, 133 male patients - 46 with CHD (age 47.1 ± 4.12 years), 87 with PAOD (51.7 ± 5.31) and 87 healthy controls (46.35 ± 3.81) were genotyped by a polymerase chain reaction and restrictive fragments length polymorphism (PCR-RFLP) for a endothelin-A receptor (ENDRA) polymorphism. The allelic and genotype frequencies were compared between the groups using the χ2 test.
Results. The novel single nucleotide polymorphism of the ENDRA gene (G1354C) was studied as a marker in CHD or PAOD. Genotype distribution in each of the groups did not deviate from the Hardy-Weinberg equilibrium. The allelic and genotype frequencies of the ENDRA gene did not differ between the groups. The allele G frequencies were 0.522 in CHD group, 0.506 in PAOD patients and 0.483 in controls.
Conclusions. No genetic association between allelic variants of ENDRA and CHD or PAOD was found. It is unlikely that genetic variation at this ENDRA gene locus could contribute to the pathogenesis of arterial disease.
Abstract
Material and methods. In the study, 133 male patients - 46 with CHD (age 47.1 ± 4.12 years), 87 with PAOD (51.7 ± 5.31) and 87 healthy controls (46.35 ± 3.81) were genotyped by a polymerase chain reaction and restrictive fragments length polymorphism (PCR-RFLP) for a endothelin-A receptor (ENDRA) polymorphism. The allelic and genotype frequencies were compared between the groups using the χ2 test.
Results. The novel single nucleotide polymorphism of the ENDRA gene (G1354C) was studied as a marker in CHD or PAOD. Genotype distribution in each of the groups did not deviate from the Hardy-Weinberg equilibrium. The allelic and genotype frequencies of the ENDRA gene did not differ between the groups. The allele G frequencies were 0.522 in CHD group, 0.506 in PAOD patients and 0.483 in controls.
Conclusions. No genetic association between allelic variants of ENDRA and CHD or PAOD was found. It is unlikely that genetic variation at this ENDRA gene locus could contribute to the pathogenesis of arterial disease.
Keywords
atherosclerosis; endothelin; ENDRA; peripheral arterial occlusive disease; coronary heart disease; single nucleotide polymorphism; genetic association
About this articleTitle
A novel molecular marker for endothelin - A receptor gene - lack of association between G1354C polymorphism and arterial disease in males
Journal
Issue
Article type
Research paper
Pages
135-142
Published online
2004-07-13
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665
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1630
Bibliographic record
Acta Angiologica 2004;10(3):135-142.
Keywords
atherosclerosis
endothelin
ENDRA
peripheral arterial occlusive disease
coronary heart disease
single nucleotide polymorphism
genetic association
Authors
Daniel P. Potaczek
Marek Sanak
Marek Krzanowski
Andrzej Szczeklik