open access

Vol 10, No 3 (2004)
Original papers
Published online: 2004-07-13
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A novel molecular marker for endothelin - A receptor gene - lack of association between G1354C polymorphism and arterial disease in males

Daniel P. Potaczek, Marek Sanak, Marek Krzanowski, Andrzej Szczeklik
Acta Angiologica 2004;10(3):135-142.

open access

Vol 10, No 3 (2004)
Original papers
Published online: 2004-07-13

Abstract

Background. There is some evidence pointing toward endothelin system involvement in pathogenesis of atherosclerosis, manifested as coronary heart disease (CHD) and peripheral arterial occlusive disease (PAOD).
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

Background. There is some evidence pointing toward endothelin system involvement in pathogenesis of atherosclerosis, manifested as coronary heart disease (CHD) and peripheral arterial occlusive disease (PAOD).
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.
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Keywords

atherosclerosis; endothelin; ENDRA; peripheral arterial occlusive disease; coronary heart disease; single nucleotide polymorphism; genetic association

About this article
Title

A novel molecular marker for endothelin - A receptor gene - lack of association between G1354C polymorphism and arterial disease in males

Journal

Acta Angiologica

Issue

Vol 10, No 3 (2004)

Pages

135-142

Published online

2004-07-13

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

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