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Association of three polymorphisms in the gene coding for endothelin-1 (ET-1) with the essential hypertension, overweight and smoking.

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VAŠKŮ Anna TSCHÖPLOVÁ Svatava MUŽÍK Jan SOUČEK Miroslav VÁCHA Jiří

Rok publikování 2002
Druh Článek v odborném periodiku
Časopis / Zdroj Experimental and Clinical Cardiology
Fakulta / Pracoviště MU

Lékařská fakulta

Citace
Obor Kardiovaskulární nemoci včetně kardiochirurgie
Klíčová slova endothelin-1; gene polymorphism; essential hypertension; BMI; smoking
Popis The aim of the study is to evaluate association of three endothelin-1 (ET-1) gene polymorphisms with the essential hypertension as well as with two risk cardiovascular factors- BMI and smoking. Three gene polymorphisms and the genotype and/or allelic distributions were compared between normotensive healthy volunteers and patients with essential hypertension. Genetic association of the three genotypes with BMI and smoking status was calculated. CA/CT dinucleotide repeat polymorphism, the G (8002) A polymorphism and 3A/-4A polymorphism (-138 insertion/ deletion) in the gene coding for endothelin-1 (ET-1, 6p21.3) in 398 subjects, 192 normotensives (healthy volunteers) and 206 patients with essential hypertension. The normotension was verified by 24-h ambulatory blood pressure monitoring (ABPM, SpaceLab 90 207). Significant inner associations were observed among all three polymophisms, which suggests possible complex interaction inside the gene. The only significant difference in single gene case-control study we proved in the lengths of allelic variants of CA/CT dinucletide repeat polymorphism. In hypertensives, the alleles of G (8002) A and -3A/-4A ET-1 polymorphisms were found to be significantly associated (G with -3A and A with -4A). None of the ET-1 gene polymorphism was associated with BMI. A highly significant increase of -3A allele of -3A/-4A ET-1 polymorphism was proved in hypertensive men who were smokers 1 (persons which are and/or have been smoking at least 7 cigarettes a week for at least one year anytime in their life) compared to never-smoking hypertensive men (OR 1.54, 95% CI 1.03-2.32, P=0.009. Smoking seems to be an independent risk cardiovascular factor genetically codetermined by the endothelin-1 gene variant.
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