Publication
A WNK4 gene variant relates to osteoporosis and not to hypertension in the Portuguese population
| dc.contributor.author | Mendes, Ana Isabel | |
| dc.contributor.author | Mascarenhas, Mário Rui | |
| dc.contributor.author | Matos, Sónia | |
| dc.contributor.author | Sousa, Inês | |
| dc.contributor.author | Ferreira, Joana | |
| dc.contributor.author | Barbosa, Ana Paula | |
| dc.contributor.author | Bicho, Manuel | |
| dc.contributor.author | Jordan, Peter | |
| dc.date.accessioned | 2011-08-09T15:06:03Z | |
| dc.date.available | 2011-08-09T15:06:03Z | |
| dc.date.issued | 2011-04 | |
| 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. 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. | por |
| dc.description.sponsorship | Fundação para a Ciência e Tecnologia (Programas de Financiamento Plurianual do BioFIG e do Metabolismo e Endocrinologia da FML, and by fellowship BD 23001/05 to AIM) | por |
| dc.identifier.citation | Mol Genet Metab. 2011 Apr;102(4):465-9. Epub 2010 Dec 22 | por |
| dc.identifier.uri | http://hdl.handle.net/10400.18/102 | |
| dc.language.iso | eng | por |
| dc.peerreviewed | yes | por |
| dc.publisher | Elsevier | por |
| dc.rights.uri | http://www.sciencedirect.com/science/article/pii/S1096719210005858 | por |
| dc.subject | Gene variant | por |
| dc.subject | hypertension | por |
| dc.subject | Low bone mineral density | por |
| dc.subject | osteoporosis | por |
| dc.subject | Predisposition | por |
| dc.subject | WNK4 protein kinase | por |
| dc.title | A WNK4 gene variant relates to osteoporosis and not to hypertension in the Portuguese population | eng |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| oaire.citation.endPage | 469 | por |
| oaire.citation.issue | 4 | por |
| oaire.citation.startPage | 465 | por |
| oaire.citation.title | Molecular Genetics and Metabolism | por |
| oaire.citation.volume | 102 | por |
| rcaap.rights | openAccess | por |
| rcaap.type | article | por |