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

Molecular Genetics and Metabolism

Volumn 102, Issue 4, 2011, Pages 465-469

  Mendes, Ana Isabel ^a   Mascarenhas, Mário Rui ^a,c,d   Matos, Sónia ^a   Sousa, Inês ^a   Ferreira, Joana ^b   Barbosa, Ana Paula ^b,c,d   Bicho, Manuel ^b,e   Jordan, Peter ^a  

^a NATIONAL INSTITUTE OF HEALTH DR RICARDO JORGE   (Portugal)

^b INSTITUTO DE MEDICINA MOLECULAR   (Portugal)

^c HOSPITAL DE SANTA MARIA   (Portugal)

^d Diabetes e Metabolismo de Lisboa   (Portugal)

^e INSTITUTO DE INVESTIGAÇÃO CIENTÍFICA BENTO DA ROCHA CABRAL   (Portugal)

Author keywords

Gene variant; Hypertension; Low bone mineral density; Osteoporosis; Predisposition; WNK4 protein kinase

Indexed keywords

ARGININE; CALCIUM ION; DNA; PROTEIN KINASE WNK4;

ADULT; AGED; ARTICLE; CALCIUM BLOOD LEVEL; CALCIUM HOMEOSTASIS; CONTROLLED STUDY; ESSENTIAL HYPERTENSION; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC CONSERVATION; GENETIC PREDISPOSITION; GENETIC RISK; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HYPERTENSION; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; OSTEOPOROSIS; PORTUGAL; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; AGED; AMINO ACID SEQUENCE; ANIMALS; CASE-CONTROL STUDIES; EXONS; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; HYPERTENSION; INTRONS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; OSTEOPOROSIS; POLYMORPHISM, SINGLE NUCLEOTIDE; PORTUGAL; PREGNANCY; PROTEIN-SERINE-THREONINE KINASES;

EID: 79952623807     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2010.12.010     Document Type: Article

References (22)

1. Wilson F.H., Disse-Nicodeme S., Choate K.A., Ishikawa K., Nelson-Williams C., Desitter I., Gunel M., Milford D.V., Lipkin G.W., Achard J.M., Feely M.P., Dussol B., Berland Y., Unwind R.J., Mayan H., Simon D.B., Farfel Z., Jeunemaitre X., Lifton R.P. Human hypertension caused by mutations in WNK kinases. Science 2001, 293:1107-1112.
2. Xu B.-e, English J.M., Wilsbacher J.L., Stippec S., Goldsmith E.J., Cobb M.H. WNK1, a novel mammalian serine/threonine protein kinase lacking the catalytic lysine in subdomain II. J. Biol. Chem. 2000, 275:16795-16801.
3. Veríssimo F., Jordan P. WNK kinases, a novel protein kinase subfamily in multi-cellular organisms. Oncogene 2001, 20:5562-5569.
4. Min X., Lee B.-H., Cobb M.H., Goldsmith E.J. Crystal structure of the kinase domain of WNK1, a kinase that causes a hereditary form of hypertension. Structure 2004, 12:1303-1311.
5. Gamba G. Role of WNK kinases in regulating tubular salt and potassium transport and in the development of hypertension. Am. J. Physiol. Ren. Physiol. 2005, 288:F245-F252.
6. Kahle K.T., Ring A.M., Lifton R.P. Molecular physiology of the WNK kinases. Annu. Rev. Physiol. 2008, 70:329-355.
7. Mayan H., Vered I., Mouallem M., Tzadok-Witkon M., Pauzner R., Farfel Z. Pseudohypoaldosteronism type II: marked sensitivity to thiazides, hypercalciuria, normomagnesemia, and low bone mineral density. J. Clin. Endocrinol. Metab. 2002, 87:3248-3254.
8. Lalioti M.D., Zhang J., Volkman H.M., Kahle K.T., Hoffmann K.E., Toka H.R., Nelson-Williams C., Ellison D.H., Flavell R., Booth C.J., Lu Y., Geller D.S., Lifton R.P. Wnk4 controls blood pressure and potassium homeostasis via regulation of mass and activity of the distal convoluted tubule. Nat. Genet. 2006, 38:1124-1132.
9. Yang S.-S., Morimoto T., Rai T., Chiga M., Sohara E., Ohno M., Uchida K., Lin S.-H., Moriguchi T., Shibuya H., Kondo Y., Sasaki S., Uchida S. Molecular pathogenesis of pseudohypoaldosteronism type II: generation and analysis of a Wnk4(D561A/+) knockin mouse model. Cell Metab. 2007, 5:331-344.
10. Jiang Y., Ferguson W.B., Peng J.-B. WNK4 enhances TRPV5-mediated calcium transport: potential role in hypercalciuria of familial hyperkalemic hypertension caused by gene mutation of WNK4. Am. J. Physiol. Ren. Physiol. 2007, 292:F545-F554.
11. Fu Y., Subramanya A., Rozansky D., Cohen D.M. WNK kinases influence TRPV4 channel function and localization. Am. J. Physiol. Ren. Physiol. 2006, 290:F1305-F1314.
12. Kahle K.T., Wilson F.H., Leng Q., Lalioti M.D., O'Connell A.D., Dong K., Kapson A.K., MacGregor G.G., Giebisch G., Hebert S.C., Lifton R.P. WNK4 regulates the balance between renal NaCl reabsorption and K+secretion. Nat. Genet. 2003, 35:372-376.
13. Schork N.J., Murray S.S., Frazer K.A., Topol E.J. Common vs. rare allele hypotheses for complex diseases. Curr. Opin. Genet. Dev. 2009, 19:212-219.
14. McClellan J., King M.-C. Genetic heterogeneity in human disease. Cell 2010, 141:210-217.
15. Levy D., Ehret G.B., Rice K., Verwoert G.C., Launer L.J., Dehghan A., Glazer N.L., Morrison A.C., Johnson A.D., Aspelund T., Aulchenko Y., Lumley T., Köttgen A., Vasan R.S., Rivadeneira F., Eiriksdottir G., Guo X., Arking D.E., Mitchell G.F., Mattace-Raso F.U., Smith A.V., Taylor K., Scharpf R.B., Hwang S.-J., Sijbrands E.J., Bis J., Harris T.B., Ganesh S.K., O'Donnell C.J., Hofman A., Rotter J.I., Coresh J., Benjamin E.J., Uitterlinden A.G., Heiss G., Fox C.S., Witteman J.C., Boerwinkle E., Wang T.J., Gudnason V., Larson M.G., Chakravarti A., Psaty B.M., van Duijn C.M. Genome-wide association study of blood pressure and hypertension. Nat. Genet. 2009, 41:677-687.
16. Ehret G.B. Genome-wide association studies: contribution of genomics to understanding blood pressure and essential hypertension. Curr. Hypertens. Rep. 2010, 12:17-25.
17. Rivadeneira F., Styrkársdottir U., Estrada K., Halldórsson B.V., Hsu Y.-H., Richards J.B., Zillikens M.C., Kavvoura F.K., Amin N., Aulchenko Y.S., Cuplles L.A., Deloukas P., Demissie S., Grundberg E., Hofman A., Kong A., Karasik D., van Meurs J.B., Oostra B., Pastinen T., Pols H.A., Sigurdsson G., Soranzo N., Thorleifsson G., Thorsteinsdottir U., Williams F.M., Wilson S.G., Zhou Y., Ralston S.H., van Duijn C.M., Spector T., Kiel D.P., Stefansson K., Ioannidis J.P., Uitterlinden A.G. Genetic Factors for Osteoporosis (GEFOS) Consortium, twenty bone mineral density loci identified by large-scale meta-analysis of genome-wide association studies. Nat. Genet. 2010, 41:1199-1206.
18. Li W.-F., Hou S.-X., Yu B., Li M.-M., Férec C., Chen J.-M. Genetics of osteoporosis: accelerating pace in gene identification and validation. Hum. Genet. 2010, 127:249-285.
19. Cheung C.-L., Xiao S.-M., Kung A.W. Genetic epidemiology of age-related osteoporosis and its clinical applications. Nat. Rev. Rheumatol. 2010, 6:507-517.
20. Tobin M.D., Raleigh S.M., Newhouse S., Braund P., Bodycote C., Ogleby J., Cross D., Gracey J., Hayes S., Smith T., Ridge C., Caulfield M., Sheehan N.A., Munroe P.B., Burton P.R., Samani N.J. Association of WNK1 gene polymorphisms and haplotypes with ambulatory blood pressure in the general population. Circulation 2005, 112:3423-3429.
21. Yang S.-S., Hsu Y.-J., Chiga M., Rai T., Sasaki S., Uchida S., Lin S.-H. Mechanisms for hypercalciuria in pseudohypoaldosteronism type II-causing WNK4 knock-in mice. Endocrinology 2010, 151:1829-1836.
22. Baz M., Berland Y., Dussol B., Jaber K., Boobes Y. Familial hyperkalemia syndrome (Gordon's syndrome). Presse Méd. 1990, 19:1981-1984.