Association of the C− 344T aldosterone synthase gene variant with essential hypertension: a meta-analysis

S Sookoian, TF Gianotti, CD González… - Journal of …, 2007 - journals.lww.com
… ‘(CYP11B2 or aldosterone synthase) and (gene or variants or polymorphism or … variant
and hypertension and related phenotypes such as plasma renin activity, plasma aldosterone, …

Gene variants of aldosterone synthase and hypertension

KF Hilgers, BMW Schmidt - Journal of Hypertension, 2005 - journals.lww.com
aldosterone is not confined to these rare diseases. Relatively frequent polymorphisms of
the gene encoding the enzyme aldosterone synthase (… that a common gene variant, the C-344T …

[PDF][PDF] Association of the-344T/C aldosterone synthase gene variant with essential hypertension.

Z Hlubocká, M Jachymova, S Heller… - Physiological …, 2009 - academia.edu
… In summary, we have observed an association of -344T/C polymorphism of aldosterone
synthase gene with hypertension in case-control study in Caucasian subjects from Czech …

Haplotype analysis of aldosterone synthase gene (CYP11B2) polymorphisms shows association with essential hypertension

NN Kumar, AV Benjafield, RCY Lin… - Journal of …, 2003 - journals.lww.com
… Thus we provide evidence for involvement of variation in the aldosterone synthase gene in
… any role or mechanism whereby variation in the aldosterone synthase gene leads to disease. …

Effects of genetic variation in the aldosterone synthase (CYP11B2) gene on enzyme function

CD Holloway, SM MacKenzie, R Fraser… - Clinical …, 2009 - Wiley Online Library
… have a raised aldosterone to renin ratio (ARR) suggesting that aldosterone production is …
activity of aldosterone synthase caused by genetic variation in the CYP11B2 gene. We …

[HTML][HTML] Novel mutations in the CYP11B2 gene causing aldosterone synthase deficiency

N Li, J Li, Y Ding, T Yu, Y Shen… - Molecular …, 2016 - … .spandidos-publications.com
… nonsense mutation and intron retention mutation were … levels of aldosterone indicated that
aldosterone synthase remained… the aldosterone synthesis catalyzed by the CYP11B2 gene in …

Structural analysis and evaluation of the aldosterone synthase gene in hypertension

E Brand, N Chatelain, P Mulatero, I Féry, K Curnow… - …, 1998 - Am Heart Assoc
… or their regulatory regions could thus contribute to genetic variation in susceptibility to
essential hypertension. To test this hypothesis, we performed 2 complementary studies of the …

The clinical significance of aldosterone synthase deficiency: report of a novel mutation in the CYP11B2 gene

E Hui, MCW Yeung, PT Cheung, E Kwan, L Low… - BMC endocrine …, 2014 - Springer
… To our knowledge, there has been no report of Chinese cases with confirmed genetic
analysis. Here, we describe a case of aldosterone synthase deficiency in a Chinese man and …

Aldosterone synthase gene (CYP11B2) C-344T polymorphism, plasma aldosterone, renin activity and blood pressure in a multi-ethnic population

A Barbato, P Russo, A Siani, EJ Folkerd… - Journal of …, 2004 - journals.lww.com
… Alongside monogenic forms of hypertension, a number of relatively common genetic
variants appear to be associated with higher blood pressure and increased susceptibility to …

Five novel mutations in CYP11B2 gene detected in patients with aldosterone synthase deficiency type I: Functional characterization and structural analyses

HH Nguyen, F Hannemann, MF Hartmann… - Molecular genetics and …, 2010 - Elsevier
genetic analyses of the CYP11B2 gene from four patients suffering from aldosterone synthase
… 4173C > G mutation leads to the substitution of serine by arginine at amino acid position …