A WNK4 gene variant relates to osteoporosis and not to hypertension in the Portuguese population

• Autor(a) principal: Mendes, Ana Isabel
• Data de Publicação: 2011
• Outros Autores: Mascarenhas, Mário Rui, Matos, Sónia, Sousa, Inês, Ferreira, Joana, Barbosa, Ana Paula, Bicho, Manuel, Jordan, Peter
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
• Texto Completo: http://hdl.handle.net/10400.18/102
• topic: Gene variant; hypertension; Low bone mineral density; osteoporosis; Predisposition; WNK4 protein kinase

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.