Mendes, Ana IsabelMascarenhas, Mário RuiMatos, SóniaSousa, InêsFerreira, JoanaBarbosa, Ana PaulaBicho, ManuelJordan, Peter2011-08-092011-08-092011-04Mol Genet Metab. 2011 Apr;102(4):465-9. Epub 2010 Dec 22http://hdl.handle.net/10400.18/102Germline 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.engGene varianthypertensionLow bone mineral densityosteoporosisPredispositionWNK4 protein kinasejournal article