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A WNK4 gene variant relates to osteoporosis and not to hypertension in the Portuguese population.

Abstract
Germline mutations in the WNK4 gene originate Gordon syndrome or pseudohypoaldosteronism type II, a familial form of hypertension with hyperkalemia and hypercalciuria. In order to elucidate the contribution of WNK4 genetic variants to hypertension and/or osteoporosis, we analyzed 271 control individuals and a cohort of 448 hypertensive and 372 osteoporosis patients from the Portuguese population. Ten genetic variants were detected in 4.3% of the population under study, none of which revealed any significant association to the hypertension phenotype. In contrast, a rare missense alteration within exon 17 in a highly conserved arginine residue showed a possible tendency for association to the osteoporosis group. Our data suggest that WNK4 polymorphism rs56116165 is a rare allelic variant in a candidate gene with a biological function in renal calcium homeostasis that may contribute to a genetic predisposition to osteoporosis.
AuthorsAna Isabel Mendes, Mário Rui Mascarenhas, Sónia Matos, Inês Sousa, Joana Ferreira, Ana Paula Barbosa, Manuel Bicho, Peter Jordan
JournalMolecular genetics and metabolism (Mol Genet Metab) Vol. 102 Issue 4 Pg. 465-9 (Apr 2011) ISSN: 1096-7206 [Electronic] United States
PMID21236712 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
CopyrightCopyright © 2010 Elsevier Inc. All rights reserved.
Chemical References
  • Protein Serine-Threonine Kinases
  • WNK4 protein, human
Topics
  • Adult
  • Aged
  • Amino Acid Sequence
  • Animals
  • Case-Control Studies
  • Exons
  • Female
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Humans
  • Hypertension (epidemiology, genetics)
  • Introns
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Mutation, Missense
  • Osteoporosis (epidemiology, genetics)
  • Polymorphism, Single Nucleotide
  • Portugal
  • Pregnancy
  • Protein Serine-Threonine Kinases (genetics)

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