Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.18/102
Título: A WNK4 gene variant relates to osteoporosis and not to hypertension in the Portuguese population
Autor: Mendes, Ana Isabel
Mascarenhas, Mário Rui
Matos, Sónia
Sousa, Inês
Ferreira, Joana
Barbosa, Ana Paula
Bicho, Manuel
Jordan, Peter
Palavras-chave: Gene variant
hypertension
Low bone mineral density
osteoporosis
Predisposition
WNK4 protein kinase
Data: Abr-2011
Editora: Elsevier
Citação: Mol Genet Metab. 2011 Apr;102(4):465-9. Epub 2010 Dec 22
Resumo: 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.
Peer review: yes
URI: http://hdl.handle.net/10400.18/102
Aparece nas colecções:DGH - Artigos em revistas internacionais

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