Document Detail

Adducin polymorphism: detection and impact on hypertension and related disorders.
MedLine Citation:
PMID:  15699449     Owner:  NLM     Status:  MEDLINE    
Adducin is a heterodymeric cytoskeleton protein, the 3 subunits of which are encoded by genes (ADD1, ADD2, ADD3) mapping to 3 different chromosomes. A long series of parallel studies in the Milan hypertensive rat strain model of hypertension and humans indicated that an altered adducin function may cause hypertension through an enhanced constitutive tubular sodium reabsorption. Six human linkage studies showed positive results when a DNA marker mapping to 30 kb from the ADD1 locus or single-nucleotide polymorphisms (SNPs) of 1 of the 3 adducin genes were considered either alone or in combination with each other or angiotensin-converting enzyme (ACE) D allele or salt intake. When DNA markers mapping at much larger distance from the ADD1 locus were used, negative results were found by 4 studies. Positive results were also obtained in 18 of 20 association studies that, in addition to blood pressure, investigated variables reflecting body sodium or the renin-angiotensin system. Mixed results regarded case-control studies or studies in predominantly normotensive populations that did not consider the above-mentioned variables. Four of 5 studies showed a selective beneficial effect of diuretics in carriers of the mutated ADD1. Twelve of 16 studies found that ADD1 polymorphism alone or in combination with that of ACE positively associates with stroke or coronary heart disease or renal or vascular dysfunctions. In conclusion, when context is taken into account, the impact of adducin in hypertension and its related disorders is clear.
Giuseppe Bianchi; Patrizia Ferrari; Jan A Staessen
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Review     Date:  2005-02-07
Journal Detail:
Title:  Hypertension     Volume:  45     ISSN:  1524-4563     ISO Abbreviation:  Hypertension     Publication Date:  2005 Mar 
Date Detail:
Created Date:  2005-02-25     Completed Date:  2005-10-25     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7906255     Medline TA:  Hypertension     Country:  United States    
Other Details:
Languages:  eng     Pagination:  331-40     Citation Subset:  IM    
School of Nephrology, Dialysis and Hypertension, University Vita Salute San Raffaele, Milan, Italy.
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MeSH Terms
Calmodulin-Binding Proteins / genetics*
Cardiovascular Diseases / genetics
Hypertension / genetics*
Kidney Diseases / genetics
Ouabain / blood
Polymorphism, Genetic*
Reg. No./Substance:
0/Calmodulin-Binding Proteins; 0/adducin; 630-60-4/Ouabain

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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