Response to Human Nedd4L rs4149601 G Allele Generates Evolutionary New Isoform I With C2 Domain
نویسندگان
چکیده
منابع مشابه
A functional variant of NEDD4L is associated with hypertension, antihypertensive response, and orthostatic hypotension.
NEDD4L is involved in the regulation of plasma volume and blood pressure by controlling cell surface expression of the kidney epithelial Na(+) channel. Previously, the cryptic splice variant rs4149601(G/A) A allele of NEDD4L, generating isoform I, was estimated to decrease blood pressure by downregulating Na(+) reabsorption. However, a recent functional study showed that isoform I should lead t...
متن کاملExpression, transcription, and possible antagonistic interaction of the human Nedd4L gene variant: implications for essential hypertension.
Net sodium balances in humans are maintained through various ion transporters expressed along the entire nephron. Among these ion transporters, epithelial sodium channels (ENaC) located along the aldosterone-sensitive distal nephron (ASDN) play a pivotal role in the homeostasis of sodium balance. This is supported by analyses of inherited hypertensive disorders, showing that genes encoding ENaC...
متن کاملPolymorphism in NEDD4L Is Associated with Increased Salt Sensitivity, Reduced Levels of P-renin and Increased Levels of Nt-proANP
OBJECTIVE Neuronal precursor cell expressed developmentally down-regulated 4-like (NEDD4L) is a regulator of the amiloride-sensitive epithelial sodium channel (ENaC), thus a candidate gene for salt sensitivity. Carriers of an intact NEDD4L C2-domain, encoded by the NEDD4L rs4149601 (G/A) GG genotype, together with the C-allele of the NEDD4L rs2288774 (C/T) polymorphism have previously been show...
متن کاملA Functional Variant of NEDD4L Is Associated with Obesity and Related Phenotypes in a Han Population of Southern China
NEDD4L is a candidate gene for hypertension, both functionally and genetically. Recently, studies showed evidence for the association of NEDD4L with obesity, a key intermediate phenotype in hypertension. To further investigate the relationship between NEDD4L and body mass-related phenotypes, we genotyped three common variants (rs2288774, rs3865418 and rs4149601) in a population-based study of 8...
متن کاملPhysiological interaction between alpha-adducin and WNK1-NEDD4L pathways on sodium-related blood pressure regulation.
The kidney plays an important role in salt and blood pressure (BP) homeostasis. In previous studies, variants in the genes for alpha-adducin (ADD1), WNK1, and NEDD4L, which all regulate renal sodium absorption, have been associated with increased BP. However, findings have been inconsistent. We tested whether this is because of physiological interactions between the effects of variants in these...
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ژورنال
عنوان ژورنال: Hypertension
سال: 2010
ISSN: 0194-911X,1524-4563
DOI: 10.1161/hypertensionaha.109.146910