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A WNK4 gene variant relates to osteoporosis and not to hypertension in the Portuguese population
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Orientador(es)
Resumo(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.
Descrição
Palavras-chave
Gene variant hypertension Low bone mineral density osteoporosis Predisposition WNK4 protein kinase
Contexto Educativo
Citação
Mol Genet Metab. 2011 Apr;102(4):465-9. Epub 2010 Dec 22
Editora
Elsevier