Mendes, A.I.Mascarenhas, M.R.Matos, SSousa, IFerreira, JBarbosa, A.P.Bicho, MJordan, P.2011-10-042011-10-042011-01http://hdl.handle.net/10400.18/238Germline 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.porDoenças GenéticasVias de Transdução de Sinal e Patologias AssociadasOsteoporoseWNK4PolimorfísmoPredisposição genéticaconference object