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

作者：Mendes Ana Isabel; Mascarenhas Mario Rui; Matos Sonia; Sousa Ines; Ferreira Joana; Barbosa Ana Paula; Bicho Manuel; Jordan Peter^*

来源：Molecular Genetics and Metabolism, 2011, 102(4): 465-469.

DOI：10.1016/j.ymgme.2010.12.010

• 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.

• 出版日期2011-4