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

VAŠKŮ, Anna, Svatava TSCHÖPLOVÁ, Jan MUŽÍK, Miroslav SOUČEK and Jiří VÁCHA. Association of three polymorphisms in the gene coding for endothelin-1 (ET-1) with the essential hypertension, overweight and smoking. Experimental and Clinical Cardiology. Kanada: xxxx, 2002, 7/2003, No 4, p. 201-204.

Basic information

• Original name: Association of three polymorphisms in the gene coding for endothelin-1 (ET-1) with the essential hypertension, overweight and smoking.
• Authors: VAŠKŮ, Anna (203 Czech Republic, guarantor), Svatava TSCHÖPLOVÁ (203 Czech Republic), Jan MUŽÍK (203 Czech Republic), Miroslav SOUČEK (203 Czech Republic) and Jiří VÁCHA (203 Czech Republic).
• Edition: Experimental and Clinical Cardiology, Kanada, xxxx, 2002.

Other information

• Original language: English
• Type of outcome: Article in a journal
• Field of Study: 30201 Cardiac and Cardiovascular systems
• Country of publisher: Canada
• Confidentiality degree: is not subject to a state or trade secret
• RIV identification code: RIV/00216224:14110/02:00005720
• Organization unit: Faculty of Medicine
• Keywords in English: endothelin-1; gene polymorphism; essential hypertension; BMI; smoking
• Tags: bmi, Endothelin-1, essential hypertension, Gene polymorphism, Smoking

Abstract

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.

Links

• GA306/96/0099, research and development project: Name: Polymorfismus genu pro endotelin - 1 (EDN 1) u esenciální hypertense

Investor: Czech Science Foundation, Polymorphism of endothelin - 1 gene (EDN 1) in essential hypertension

• MSM 141100002, plan (intention): Name: Molekulární patofyziologie multigenních chorob

Investor: Ministry of Education, Youth and Sports of the CR, Molecular pathophysiology of multigene diseases