Publication
Uma variante do gene WNK4 está associada à osteoporose mas não à hipertensão na população portuguesa
| dc.contributor.author | Mendes, A.I. | |
| dc.contributor.author | Mascarenhas, M.R. | |
| dc.contributor.author | Matos, S | |
| dc.contributor.author | Sousa, I | |
| dc.contributor.author | Ferreira, J | |
| dc.contributor.author | Barbosa, A.P. | |
| dc.contributor.author | Bicho, M | |
| dc.contributor.author | Jordan, P. | |
| dc.date.accessioned | 2011-10-04T14:46:05Z | |
| dc.date.available | 2011-10-04T14:46:05Z | |
| dc.date.issued | 2011-01 | |
| dc.description.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. | por |
| dc.description.sponsorship | FCT | por |
| dc.identifier.uri | http://hdl.handle.net/10400.18/238 | |
| dc.language.iso | por | por |
| dc.peerreviewed | yes | por |
| dc.relation | Programa de Financiamento Plurianual do BioFIG | por |
| dc.subject | Doenças Genéticas | por |
| dc.subject | Vias de Transdução de Sinal e Patologias Associadas | por |
| dc.subject | Osteoporose | por |
| dc.subject | WNK4 | por |
| dc.subject | Polimorfísmo | por |
| dc.subject | Predisposição genética | por |
| dc.title | Uma variante do gene WNK4 está associada à osteoporose mas não à hipertensão na população portuguesa | por |
| dc.type | conference object | |
| dspace.entity.type | Publication | |
| oaire.citation.conferencePlace | Troia, 27-30 de Janeiro de 2011 | por |
| oaire.citation.title | 62ª Reunião Anual da Sociedade Portuguesa de Endocrinologia e Doenças Metabólicas | por |
| rcaap.rights | openAccess | por |
| rcaap.type | conferenceObject | por |