Validation of uromodulin as a candidate gene for human essential hypertension

Hypertension

Volumn 63, Issue 3, 2014, Pages 551-558

  Graham, Lesley A ^a   Padmanabhan, Sandosh ^a   Fraser, Niall J ^a   Kumar, Satish ^b   Bates, James M ^b   Raffi, Hajamohideen S ^b   Welsh, Paul ^a   Beattie, Wendy ^a   Hao, Shoujin ^c   Leh, Sabine ^d   Hultstrom, Michael ^e   Ferreri, Nicholas R ^c   Dominiczak, Anna F ^a   Graham, Delyth ^a   Mcbride, Martin W ^a  

^a UNIVERSITY OF GLASGOW   (United Kingdom)

^b VETERANS AFFAIRS MEDICAL CENTER   (United States)

^c NEW YORK MEDICAL COLLEGE   (United States)

^d HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^e UPPSALA UNIVERSITY   (Sweden)

Author keywords

hypertension; mice; mice, knockout; Umod protein, mouse; uromodulin

Indexed keywords

HYPERTENSION; MICE; MICE, KNOCKOUT; UMOD PROTEIN, MOUSE; UROMODULIN;

ANIMALS; BLOOD PRESSURE; DISEASE MODELS, ANIMAL; ENZYME-LINKED IMMUNOSORBENT ASSAY; GENE EXPRESSION REGULATION; HUMANS; HYPERTENSION; MALE; MICE; MICE, KNOCKOUT; REAL-TIME POLYMERASE CHAIN REACTION; RNA; TUMOR NECROSIS FACTOR-ALPHA; UROMODULIN;

EID: 84894470656     PISSN: 0194911X     EISSN: 15244563     Source Type: Journal    
DOI: 10.1161/HYPERTENSIONAHA.113.01423     Document Type: Article

References (26)

1. Lewington S, Clarke R, Qizilbash N, Peto R, Collins R; Prospective Studies Collaboration. Age-specific relevance of usual blood pressure to vascular mortality: A meta-Analysis of individual data for one million adults in 61 prospective studies. Lancet. 2002;360:1903-1913.
2. Guyton AC, Coleman TG, Granger HJ. Circulation: Overall regulation. Annu Rev Physiol. 1972;34:13-46.
3. Lifton RP, Gharavi AG, Geller DS. Molecular mechanisms of human hypertension. Cell. 2001;104:545-556.
4. Rettig R, Grisk O. The kidney as a determinant of genetic hypertension: Evidence from renal transplantation studies. Hypertension. 2005;46:463-468.
5. Padmanabhan S, Newton-Cheh C, Dominiczak AF. Genetic basis of blood pressure and hypertension. Trends Genet. 2012;28:397-408.
6. Ehret GB, Munroe PB, Rice KM, et al. Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Nature. 2011;478:103-109.
7. Padmanabhan S, Melander O, Johnson T, et al; Global BPgen Consortium. Genome-wide association study of blood pressure extremes identifies variant near UMOD associated with hypertension. PLoS Genet. 2010;6:e1001177.
8. Koddddttgen A, Glazer NL, Dehghan A, et al. Multiple loci associated with indices of renal function and chronic kidney disease. Nat Genet. 2009;41:712-717.
9. Garciá NH, Plato CF, Stoos BA, Garvin JL. Nitric oxide-induced inhibition of transport by thick ascending limbs from Dahl salt-sensitive rats. Hypertension. 1999;34:508-513.
10. Acuña R, Martínez-De-La-Maza L, Ponce-Coria J, Vázquez N, Ortal-Vite P, Pacheco-Alvarez D, Bobadilla NA, Gamba G. Rare mutations in SLC12A1 and SLC12A3 protect against hypertension by reducing the activity of renal salt cotransporters. J Hypertens. 2011;29:475-483.
11. Mutig K, Kahl T, Saritas T, Godes M, Persson P, Bates J, Raffi H, Rampoldi L, Uchida S, Hille C, Dosche C, Kumar S, Castañeda-Bueno M, Gamba G, Bachmann S. Activation of the bumetanide-sensitive Na+,K+,2Clcotransporter (NKCC2) is facilitated by Tamm-Horsfall protein in a chloride-sensitive manner. J Biol Chem. 2011;286:30200-30210.
12. Bachmann S, Mutig K, Bates J, Welker P, Geist B, Gross V, Luft FC, Alenina N, Bader M, Thiele BJ, Prasadan K, Raffi HS, Kumar S. Renal effects of Tamm-Horsfall protein (uromodulin) deficiency in mice. Am J Physiol Renal Physiol. 2005;288:F559-F567.
13. Sherblom AP, Decker JM, Muchmore AV. The lectin-like interaction between recombinant tumor necrosis factor and uromodulin. J Biol Chem. 1988;263:5418-5424.
14. Hao S, Zhao H, Darzynkiewicz Z, Battula S, Ferreri NR. Differential regulation of NFAT5 by NKCC2 isoforms in medullary thick ascending limb (mTAL) cells. Am J Physiol Renal Physiol. 2011;300:F966-F975.
15. Bates JM, Raffi HM, Prasadan K, Mascarenhas R, Laszik Z, Maeda N, Hultgren SJ, Kumar S. Tamm-Horsfall protein knockout mice are more prone to urinary tract infection: Rapid communication. Kidney Int. 2004;65:791-797.
16. Eng B, Mukhopadhyay S, Vio CP, Pedraza PL, Hao S, Battula S, Sehgal PB, McGiff JC, Ferreri NR. Characterization of a long-Term rat mTAL cell line. Am J Physiol Renal Physiol. 2007;293:F1413-F1422.
17. Macica CM, Escalante BA, Conners MS, Ferreri NR. TNF production by the medullary thick ascending limb of Henle's loop. Kidney Int. 1994;46:113-121.
18. Escalante BA, Ferreri NR, Dunn CE, McGiff JC. Cytokines affect iontransport in primary cultured thick ascending limb of Henle's loop cells. Am J Physiol. 1994;266(6 pt 1):C1568-C1576.
19. Ferreri NR, Zhao Y, Takizawa H, McGiff JC. Tumor necrosis factor-Alphaangiotensin interactions and regulation of blood pressure. J Hypertens. 1997;15(12 pt 1):1481-1484.
20. Ferreri NR, Escalante BA, Zhao Y, An SJ, McGiff JC. Angiotensin II induces TNF production by the thick ascending limb: Functional implications. Am J Physiol. 1998;274(1 pt 2):F148-F155.
21. Muchmore AV, Decker JM. Uromodulin. An immunosuppressive 85-kilodalton glycoprotein isolated from human pregnancy urine is a high affinity ligand for recombinant interleukin 1 alpha. J Biol Chem. 1986;261: 13404-13407.
22. Battula S, Hao S, Pedraza PL, Stier CT, Ferreri NR. Tumor necrosis factor-Alpha is an endogenous inhibitor of Na+-K+-2Cl-cotransporter (NKCC2) isoform A in the thick ascending limb. Am J Physiol Renal Physiol. 2011;301:F94-100.
23. Ferreri NR, Hao S, Pedraza PL, Escalante B, Vio CP. Eicosanoids and tumor necrosis factor-Alpha in the kidney. Prostaglandins Other Lipid Mediat. 2012;98:101-106.
24. Burg MB. Tubular chloride transport and the mode of action of some diuretics. Kidney Int. 1976;9:189-197.
25. Starremans PG, Kersten FF, Knoers NV, van den Heuvel LP, Bindels RJ. Mutations in the human Na-K-2Cl cotransporter (NKCC2) identified in Bartter syndrome type I consistently result in nonfunctional transporters. J Am Soc Nephrol. 2003;14:1419-1426.
26. Hao S, Bellner L, Ferreri NR. NKCC2A and NFAT5 regulate renal TNF production induced by hypertonic NaCl intake. Am J Physiol Renal Physiol. 2013;304:F533-F542.