Document Detail


Genetic variation of the gamma subunit of the epithelial Na+ channel and essential hypertension. Relationship with salt sensitivity.
MedLine Citation:
PMID:  10912748     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We evaluated the association of a common polymorphism in gammaENaC, consisting in a C to G transversion in codon 649, with essential hypertension and to the pressor response to salt in whites. Two hundred fifteen essential hypertensive patients, and 137 normotensive controls were genotyped for the gamma649 ENaC polymorphism by polymerase chain reaction method and diagnostic restriction enzyme digestion. The genotype distribution of the gamma649 ENaC polymorphism in the hypertensives, 129 CC (60%) and 86 CG/GG (40%) was not significantly different from that of the control group, 84 CC (61%) and 53 CG/GG (39%) (P = .81). Salt sensitivity was assessed in a group of 48 patients by 24-h mean blood pressure response to changes in salt intake. Nineteen patients were diagnosed as salt sensitive, whereas 29 had salt-resistant hypertension. The gamma649 ENaC genotype distribution in salt-sensitive patients was 12 CC (63%) and 7 CG/GG (37%), not significantly different from the distribution in the salt-resistant group, 19 CC (65%) and 10 CG/GG (35%), P = .87. The changes in systolic, diastolic, and mean blood pressure as measured by ambulatory blood pressure monitoring, and in plasma renin activity and plasma aldosterone induced by high salt diet were not different among the gamma649 ENaC genotypes. In the present study we found no association between the gamma649 ENaC polymorphism and essential hypertension or salt sensitivity. Although these data do not support a major causative role for this polymorphism, we cannot exclude that a functional mutation elsewhere in ENaC might be associated with essential hypertension.
Authors:
E Poch; D González; A de la Sierra; V Giner; E Bragulat; A Botey; A Coca; F Rivera
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Publication Detail:
Type:  Comparative Study; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  American journal of hypertension     Volume:  13     ISSN:  0895-7061     ISO Abbreviation:  Am. J. Hypertens.     Publication Date:  2000 Jun 
Date Detail:
Created Date:  2000-11-02     Completed Date:  2000-11-21     Revised Date:  2009-02-24    
Medline Journal Info:
Nlm Unique ID:  8803676     Medline TA:  Am J Hypertens     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  648-53     Citation Subset:  IM    
Affiliation:
Servicio de Nefrología, Institut d'Investigacions Biomèdiques August Pi i Sunyer, Hospital Clínic, Universidad de Barcelona, Spain. epoch@medicina.ub.es
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MeSH Terms
Descriptor/Qualifier:
Adult
Aldosterone / blood
Blood Pressure / drug effects*,  genetics,  physiology
Blood Pressure Monitoring, Ambulatory
DNA / analysis*
DNA Primers / chemistry
Epithelial Sodium Channel
Female
Genetic Predisposition to Disease
Genotype
Humans
Hypertension / blood,  genetics*,  physiopathology
Male
Middle Aged
Point Mutation
Polymerase Chain Reaction
Polymorphism, Genetic*
Renin / blood
Sodium Channels / blood,  genetics*
Sodium, Dietary / adverse effects*
Chemical
Reg. No./Substance:
0/DNA Primers; 0/Epithelial Sodium Channel; 0/Sodium Channels; 0/Sodium, Dietary; 52-39-1/Aldosterone; 9007-49-2/DNA; EC 3.4.23.15/Renin

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