TY - JOUR
T1 - Comparative genetic analysis of different forms of low-renin arterial hypertension
AU - Chikhladze, N. M.
AU - Samedova, Kh F.
AU - Sudomoina, M. A.
AU - Min, Ko
AU - Koliadina, Ju A.
AU - Litonova, G. N.
AU - Favorov, A. V.
AU - Chazova, I. E.
AU - Favorova, O. O.
N1 - Funding Information:
ACKNOWLEDGMENTS This work was supported by the Russian Foundation for Basic Research (project no. 05-04-48982-a), the federal targeted program National Technological Basis (state contract no. GP/07/440/NTB/K), and the US National Institutes of Health (grant no. R03 LM008932).
PY - 2008/8
Y1 - 2008/8
N2 - Arterial hypertension (AH) ranks among the most widespread cardiovascular diseases and is clinically and genetically heterogeneous. Except for rare monogenic forms, AH is polygenic, and an important role in AH predisposition belongs to genes of the renin-angiotensin-aldosterone system. Low renin activity in blood plasma is observed in 20-25% of AH cases (low-renin form of AH), while aldosterone production can be elevated (hyperaldosteronism, HA) or normal in these cases. Several polymorphisms of the genes coding for the renin-angiotensin-aldosterone system components were studied in patients with low-renin AH forms: primary HA, idiopathic HA, and AH with a normal aldosterone level. The chimeric CYP11B2/CYP11B1 gene, causing monogenic familial HA type 1, was absent from all HA cases studied. The patient groups were compared with respect to the allele and genotype frequency distributions of the polymorphisms of several genes (CYP11B2 (C-344T), REN (C-5434T, C-5312T, and A BglI G), AGT (Thr174Met), ACE (I/D), CMA (G-1903A), AT2R1 (A1166C)), and their combinations. Analysis of the carriership of the allele and genotype combinations implicated CYP11B2, REN, ACE, CMA, and AT2R1 in low-renin HA. The results revealed both similar and different features in the genetic nature of different low-renin AH forms. Investigation of the genetic predisposition to clinically heterogeneous forms of polygenic diseases by comparing patient groups, formed in accordance with peculiarities of the disease course, holds much promise for understanding their hereditary background.
AB - Arterial hypertension (AH) ranks among the most widespread cardiovascular diseases and is clinically and genetically heterogeneous. Except for rare monogenic forms, AH is polygenic, and an important role in AH predisposition belongs to genes of the renin-angiotensin-aldosterone system. Low renin activity in blood plasma is observed in 20-25% of AH cases (low-renin form of AH), while aldosterone production can be elevated (hyperaldosteronism, HA) or normal in these cases. Several polymorphisms of the genes coding for the renin-angiotensin-aldosterone system components were studied in patients with low-renin AH forms: primary HA, idiopathic HA, and AH with a normal aldosterone level. The chimeric CYP11B2/CYP11B1 gene, causing monogenic familial HA type 1, was absent from all HA cases studied. The patient groups were compared with respect to the allele and genotype frequency distributions of the polymorphisms of several genes (CYP11B2 (C-344T), REN (C-5434T, C-5312T, and A BglI G), AGT (Thr174Met), ACE (I/D), CMA (G-1903A), AT2R1 (A1166C)), and their combinations. Analysis of the carriership of the allele and genotype combinations implicated CYP11B2, REN, ACE, CMA, and AT2R1 in low-renin HA. The results revealed both similar and different features in the genetic nature of different low-renin AH forms. Investigation of the genetic predisposition to clinically heterogeneous forms of polygenic diseases by comparing patient groups, formed in accordance with peculiarities of the disease course, holds much promise for understanding their hereditary background.
KW - Allelic polymorphism
KW - Chimeric CYP11B2/CYP11B1 gene
KW - Genes of the renin-angiotensin-aldosterone system
KW - Hyperaldosteronism
KW - Low-renin arterial hypertension
KW - PCR
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U2 - 10.1134/S0026893308040067
DO - 10.1134/S0026893308040067
M3 - Article
AN - SCOPUS:49549115118
SN - 0026-8933
VL - 42
SP - 521
EP - 530
JO - Molecular Biology
JF - Molecular Biology
IS - 4
ER -