Evaluation of three polymorphisms in the promoter region of the angiotensin II type I receptor gene
作者:
Xun Zhang,
Jeanette Erdmann,
Vera Regitz-Zagrosek,
Susanne Kürzinger,
Hans-Werner Hense,
Heribert Schunkert,
期刊:
Journal of Hypertension
(OVID Available online 2000)
卷期:
Volume 18,
issue 3
页码: 267-272
ISSN:0263-6352
年代: 2000
出版商: OVID
关键词: angiotensin II type I receptor gene;promoter;polymorphism
数据来源: OVID
摘要:
BackgroundAngiotensin II induces vasoconstriction and growth via stimulation of the AT1receptor. A genetic variant (+1166A/C) in the 3′ untranslated region of this gene had been found to be associated with arterial hypertension, aortic stiffness and coronary artery disease.ObjectiveIn order to evaluate further the potential implications of the genetic variability of the AT1gene we explored three newly characterized single nucleotide polymorphisms (SNPs) in its promoter in a Caucasian population-based sample (n= 623). One of these (−2228G/A) is in complete linkage disequilibrium with six additional SNPs in the region such that, indirectly, potential functional implications of these sites were assessed as well. For comparison, we genotyped the previously described +1166A/C variant.ResultsThe allele frequencies of the −2228G/A, −1424C/ G and −521C/T SNPs were 0.82/0.18, 0.963/0.037 and 0.64/0.36, respectively. Statistical analysis by one-factor ANOVA revealed no significant relationship of any allele, genotype or haplotype with age, sex, body mass index, heart rate, systolic or diastolic blood pressure, hypertension, the intake of antihypertensive medication or left ventricular mass. Likewise, renin, angiotensinogen, angiotensin-converting enzyme, aldosterone or atrial natriuretic peptide levels were not found to be associated with any of these SNPs. Surprisingly, the −2228 A allele was found to be overrepresented in subjects with diabetes mellitus (n= 25,P= 0.006). However, this result could not be confirmed when additional individuals with diabetes mellitus (n= 45) were analysed. A weak linkage disequilibrium was observed between the −2228 A allele and the +1166 C allele (χ213.1;P= 0.010).ConclusionFrom the present data it is unlikely that any one of the nine newly characterized SNPs in the promoter region of AT1gene is associated with arterial hypertension.
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