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

Mendes, Ana Isabel; Mascarenhas, Mário Rui; Matos, Sónia; Sousa, Inês; Ferreira, Joana; Barbosa, Ana Paula; Bicho, Manuel; Jordan, Peter

http://hdl.handle.net/10400.18/102

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Authors

Mendes, Ana Isabel

Mascarenhas, Mário Rui

Abstract(s)

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.