Document Detail


Renal albumin excretion: twin studies identify influences of heredity, environment, and adrenergic pathway polymorphism.
MedLine Citation:
PMID:  17353515     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Albumin excretion marks early glomerular injury in hypertension. This study investigated heritability of albumin excretion in twin pairs and its genetic determination by adrenergic pathway polymorphism. Genetic associations used single nucleotide polymorphisms at adrenergic pathway loci spanning catecholamine biosynthesis, storage, catabolism, receptor action, and postreceptor signal transduction. We studied 134 single nucleotide polymorphisms at 46 loci for a total of >51,000 genotypes. Albumin excretion heritability was 45.2+/-7.4% (P=2x10(-7)), and the phenotype aggregated significantly with adrenergic, renal, metabolic, and hemodynamic traits. In the adrenergic system, excretions of both norepinephrine and epinephrine correlated with albumin. In the kidney, albumin excretion correlated with glomerular and tubular traits (Na(+) and K(+) excretion; fractional excretion of Na(+) and Li(+)). Albumin excretion shared genetic determination (genetic covariance) with epinephrine excretion, and environmental determination with glomerular filtration rate and electrolyte intake/excretion. Albumin excretion associated with polymorphisms at multiple points in the adrenergic pathway: catecholamine biosynthesis (tyrosine hydroxylase), catabolism (monoamine oxidase A), storage/release (chromogranin A), receptor target (dopamine D1 receptor), and postreceptor signal transduction (sorting nexin 13 and rho kinase). Epistasis (gene-by-gene interaction) occurred between alleles at rho kinase, tyrosine hydroxylase, chromogranin A, and sorting nexin 13. Dopamine D1 receptor polymorphism showed pleiotropic effects on both albumin and dopamine excretion. These studies establish new roles for heredity and environment in albumin excretion. Urinary excretions of albumin and catecholamines are highly heritable, and their parallel suggests adrenergic mediation of early glomerular permeability alterations. Albumin excretion is influenced by multiple adrenergic pathway genes and is, thus, polygenic. Such functional links between adrenergic activity and glomerular injury suggest novel approaches to its prediction, prevention, diagnosis, and treatment.
Authors:
Fangwen Rao; Jennifer Wessel; Gen Wen; Lian Zhang; Brinda K Rana; Brian P Kennedy; Tiffany A Greenwood; Rany M Salem; Yuqing Chen; Srikrishna Khandrika; Bruce A Hamilton; Douglas W Smith; Niels-Henrik Holstein-Rathlou; Michael G Ziegler; Nicholas J Schork; Daniel T O'Connor
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, Non-P.H.S.; Twin Study     Date:  2007-03-12
Journal Detail:
Title:  Hypertension     Volume:  49     ISSN:  1524-4563     ISO Abbreviation:  Hypertension     Publication Date:  2007 May 
Date Detail:
Created Date:  2007-04-19     Completed Date:  2007-05-07     Revised Date:  2007-12-03    
Medline Journal Info:
Nlm Unique ID:  7906255     Medline TA:  Hypertension     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1015-31     Citation Subset:  IM    
Affiliation:
Department of Medicine, Center for Human Genetics and Genomics, University of California at San Diego, La Jolla, CA 92093-0838, USA.
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Aged
Aged, 80 and over
Albuminuria / genetics*,  metabolism*,  physiopathology
Catecholamines / biosynthesis,  metabolism
Environment*
Epistasis, Genetic
Exocytosis
Female
Haplotypes
Humans
Kidney / metabolism*
Male
Middle Aged
Polymorphism, Genetic*
Receptors, Adrenergic / genetics
Receptors, Dopamine D1 / genetics
Signal Transduction / genetics
Sympathetic Nervous System / physiopathology*
Grant Support
ID/Acronym/Agency:
RR00827/RR/NCRR NIH HHS
Chemical
Reg. No./Substance:
0/Catecholamines; 0/Receptors, Adrenergic; 0/Receptors, Dopamine D1

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