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Title: Uma variante do gene WNK4 está associada à osteoporose mas não à hipertensão na população portuguesa
Author: Mendes, A.I.
Mascarenhas, M.R.
Matos, S
Sousa, I
Ferreira, J
Barbosa, A.P.
Bicho, M
Jordan, P.
Keywords: Doenças Genéticas
Vias de Transdução de Sinal e Patologias Associadas
Predisposição genética
Issue Date: Jan-2011
Abstract: Germline mutations in the WNK4 gene originate Gordon syndrome or pseudohypoaldosteronism type II, a familial form of hypertension with hyperkalemia and hypercalciuria. The WNK4 protein encodes a protein kinase involved in the regulation of various renal ion channels. 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 in a highly conserved arginine residue in exon 17 showed an association to the osteoporosis group. Our data suggest that WNK4 polymorphism rs56116165 is a rare allelic variant of a candidate gene with a biological function in renal calcium homeostasis and thus may contribute to a genetic predisposition to osteoporosis.
Peer review: yes
Appears in Collections:DGH - Apresentações orais em encontros nacionais

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