Association Of The-344t/C Aldosterone Synthase Gene Variant With Essential Hypertension

Z. Hlubocka, M. Jachymova,S. Heller, V. Umnerova,V. Danzig, V. Lanska, K. Horky, A. Linhart

Physiological research(2009)

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摘要
The aldosterone synthase gene (CYP11B2) is an important candidate gene region in essential hypertension. We therefore studied the association of -344T/C polymorphism of the CYP11B2 gene with the presence and severity of hypertension in a case-control study. We studied 369 individuals, of whom 213 were hypertensive patients (139 controlled hypertensive, 74 resistant hypertensive) and 156 were healthy normotensive subjects. The -344T/C polymorphism of the CYP11B2 gene was determined using polymerase chain reaction - restriction fragment length polymorphism analysis. The distribution of genotypes in normotensive controls and hypertensive subjects were: TT 25.6 vs. 31.9%, TC 51.9 vs. 57.3% and CC 22.4 vs. 10.8%. The -344T/C variant was associated with hypertension. Subjects carrying the -344T allele had a greater risk of hypertension compared to those having C allele(X-2 = 5.89, p<0.05). The frequency of CC genotype was significantly lower in hypertensive patients than in normotensive controls (X-2=9.44, p<0.01). A stepwise logistic regression analysis confirmed these findings. We did not find an association of -344T/C variant with the resistance of hypertensive patients to combination therapy, but we observed an association of -344T/C polymorphism of aldosterone synthase gene with increased risk of hypertension. These results support a potential role of -344T/C CYP11B2 gene polymorphism in genetic predisposition to develop hypertension.
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关键词
Aldosterone synthase,Hypertension,Polymorphism,Aldosterone
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