Uma variante do gene WNK4 está associada à osteoporose mas não à hipertensão na...

• Author(s): Mendes, A.I. ; Mascarenhas, M.R. ; Matos, S ; Sousa, I ; Ferreira, J ; Barbosa, A.P. ; Bicho, M ; Jordan, P.
• Date: 2011
• Persistent ID: http://hdl.handle.net/10400.18/238
• Origin: Repositório Científico do Instituto Nacional de Saúde
• Subject(s): Doenças Genéticas; Vias de Transdução de Sinal e Patologias Associadas; Osteoporose; WNK4; Polimorfísmo; Predisposição genética
• Document Type: Conference Object
• Language: Portuguese

Description

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.