Uromodulin levels associate with a common UMOD variant and risk for incident CKD

Journal of the American Society of Nephrology

Volumn 21, Issue 2, 2010, Pages 337-344

  Köttgen, Anna ^a   Hwang, Shih Jen ^b,c   Larson, Martin G ^d   Van Eyk, Jennifer E ^e   Fu, Qin ^e   Benjamin, Emelia J ^b,f   Dehghan, Abbas ^g   Glazer, Nicole L ^h   Kao, W H Linda ^a   Harris, Tamara B ⁱ   Gudnason, Vilmundur ^j,k   Shlipak, Michael G ^l   Yang, Qiong ^d   Coresh, Josef ^a   Levy, Daniel ^b,c   Fox, Caroline S ^b,c,m  

^a JOHNS HOPKINS BLOOMBERG SCHOOL OF PUBLIC HEALTH   (United States)

^b FRAMINGHAM HEART STUDY   (United States)

^c NATIONAL HEART LUNG AND BLOOD INSTITUTE   (United States)

^d NATIONAL INSTITUTE ON AGING   (United States)

^e Division of Biostatistics   (United States)

^f BOSTON UNIVERSITY SCHOOL OF PUBLIC HEALTH   (United States)

^g JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^h ERASMUS MEDICAL CENTER   (Netherlands)

ⁱ UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^j ICELANDIC HEART ASSOCIATION   (Iceland)

^k UNIVERSITY OF ICELAND   (Iceland)

^l UNIVERSITY OF CALIFORNIA   (United States)

^m BRIGHAM AND WOMEN S HOSPITAL   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSE; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; TAMM HORSFALL GLYCOPROTEIN; MOLECULAR MOTOR; MUCOPROTEIN; MYH9 PROTEIN, HUMAN; MYOSIN HEAVY CHAIN; TAMM-HORSFALL PROTEIN;

ADULT; AGED; ALLELE; ARTICLE; BODY MASS; CHRONIC KIDNEY DISEASE; CONTROLLED STUDY; FEMALE; GENETIC ASSOCIATION; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE; GLOMERULUS FILTRATION RATE; GLUCOSE BLOOD LEVEL; HUMAN; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; PROTEIN URINE LEVEL; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM; SYSTOLIC BLOOD PRESSURE; URINALYSIS; CASE CONTROL STUDY; CHRONIC DISEASE; GENETIC PREDISPOSITION; GENETICS; KIDNEY DISEASE; KIDNEY POLYCYSTIC DISEASE; MIDDLE AGED; PATHOPHYSIOLOGY; PHYSIOLOGY; URINE;

AGED; AGED, 80 AND OVER; CASE-CONTROL STUDIES; CHRONIC DISEASE; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; GLOMERULAR FILTRATION RATE; HUMANS; KIDNEY DISEASES; KIDNEY DISEASES, CYSTIC; MALE; MIDDLE AGED; MOLECULAR MOTOR PROTEINS; MUCOPROTEINS; MYOSIN HEAVY CHAINS; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS;

EID: 77949346577     PISSN: 10466673     EISSN: 15333450     Source Type: Journal    
DOI: 10.1681/ASN.2009070725     Document Type: Article

References (30)

1. Zhang QL, Rothenbacher D: Prevalence of chronic kidney disease in population-based studies: systematic review. BMC Public Health 8: 117, 2008
2. Coresh J, Selvin E, Stevens LA, Manzi J, Kusek JW, Eggers P, Van Lente F, Levey AS: Prevalence of chronic kidney disease in the United States. JAMA 298: 2038-2047, 2007
3. de Lusignan S, Chan T, Stevens P, O'Donoghue D, Hague N, Dzregah B, Van Vlymen J, Walker M, Hilton S: Identifying patients with chronic kidney disease from general practice computer records. Fam Pract 22: 234-241, 2005
4. Sarnak MJ, Levey AS, Schoolwerth AC, Coresh J, Culleton B, Hamm LL, McCullough PA, Kasiske BL, Kelepouris E, Klag MJ, Parfrey P, Pfeffer M, Raij L, Spinosa DJ, Wilson PW; American Heart Association Councils on Kidney in Cardiovascular Disease, High Blood Pressure Research, Clinical Cardiology, and Epidemiology and Prevention: Kidney disease as a risk factor for development of cardiovascular disease: A statement from the American Heart Association Councils on Kidney in Cardiovascular Disease, High Blood Pressure Research, Clinical Cardiology, and Epidemiology and Prevention. Hypertension 42: 1050-1065, 2003
5. Weiner DE, Tighiouart H, Amin MG, Stark PC, MacLeod B, Griffith JL, Salem DN, Levey AS, Sarnak MJ: Chronic kidney disease as a risk factor for cardiovascular disease and all-cause mortality: A pooled analysis of community-based studies. J Am Soc Nephrol 15: 1307-1315, 2004
6. Satko SG, Sedor JR, Iyengar SK, Freedman BI: Familial clustering of chronic kidney disease. Semin Dial 20: 229-236, 2007
7. Kö ttgen A, Glazer NL, Dehghan A, Hwang SJ, Katz R, Li M, Yang Q, Gudnason V, Launer LJ, Harris TB, Smith AV, Arking DE, Astor BC, Boerwinkle E, Ehret GB, Ruczinski I, Scharpf RB, Ida Chen YD, de Boer IH, Haritunians T, Lumley T, Sarnak M, Siscovick D, Benjamin EJ, Levy D, Upadhyay A, Aulchenko YS, Hofman A, Rivadeneira F, Uitterlinden AG, van Duijn CM, Chasman DI, Paré G, Ridker PM, Kao WH, Witte-man JC, Coresh J, Shlipak MG, Fox CS: Multiple loci associated with indices of renal function and chronic kidney disease. Nat Genet 41: 712-717, 2009
8. Hart TC, Gorry MC, Hart PS, Woodard AS, Shihabi Z, Sandhu J, Shirts B, Xu L, Zhu H, Barmada MM, Bleyer AJ: Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy. J Med Genet 39: 882-892, 2002
9. Serafini-Cessi F, Malagolini N, Cavallone D: Tamm-Horsfall glycopro-tein: Biology and clinical relevance. Am J Kidney Dis 42: 658-676, 2003
10. Tamm I, Horsfall FL Jr: Characterization and separation of an inhibitor of viral hemagglutination present in urine. Proc Soc Exp Biol Med 74: 106-108, 1950
11. Muchmore AV, Decker JM: Uromodulin: A unique 85-kilodalton im-munosuppressive glycoprotein isolated from urine of pregnant women. Science 229: 479-481, 1985
12. Rampoldi L, Caridi G, Santon D, Boaretto F, Bernascone I, Lamorte G, Tardanico R, Dagnino M, Colussi G, Scolari F, Ghiggeri GM, Amoroso A, Casari G: Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics. Hum Mol Genet 12: 3369-3384, 2003
13. Dahan K, Devuyst O, Smaers M, Vertommen D, Loute G, Poux JM, Viron B, Jacquot C, Gagnadoux MF, Chauveau D, Bü chler M, Cochat P, Cosyns JP, Mougenot B, Rider MH, Antignac C, Verellen-Dumoulin C, Pirson Y: A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin. J Am Soc Nephrol 14: 2883-2893, 2003
14. Bleyer AJ, Hart TC, Shihabi Z, Robins V, Hoyer JR: Mutations in the uromodulin gene decrease urinary excretion of Tamm-Horsfall protein. Kidney Int 66: 974-977, 2004
15. Thornley C, Dawnay A, Cattell WR: Human Tamm-Horsfall glycopro-tein: Urinary and plasma levels in normal subjects and patients with renal disease determined by a fully validated radioimmunoassay. Clin Sci (Lond) 68: 529-535, 1985
16. Bernascone I, Vavassori S, Di Pentima A, Santambrogio S, Lamorte G, Amoroso A, Scolari F, Ghiggeri GM, Casari G, Polishchuk R, Rampoldi L: Defective intracellular trafficking of uromodulin mutant isoforms. Traffic 7: 1567-1579, 2006
17. Vylet'al P, Kublová M, Kalbá cová M, Hodanová K, Baresová V, Stibu? rková B, Sikora J, Hu? lková H, Zivný J, Majewski J, Simmonds A, Fryns JP, Venkat-Raman G, Elleder M, Kmoch S: Alterations of uro-modulin biology: A common denominator of the genetically heterogeneous FJHN/MCKD syndrome. Kidney Int 70: 1155-1169, 2006
18. Williams SE, Reed AA, Galvanovskis J, Antignac C, Goodship T, Karet FE, Kotanko P, Lhotta K, Morinière V, Williams P, Wong W, Rorsman P, Thakker RV: Uromodulin mutations causing familial juvenile hyperuri-caemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum. Hum Mol Genet 18: 2963-2974, 2009
19. Su SJ, Chang KL, Lin TM, Huang YH, Yeh TM: Uromodulin and Tamm-Horsfall protein induce human monocytes to secrete TNF and express tissue factor. J Immunol 158: 3449-3456, 1997
20. Kobayashi K, Fukuoka S: Conditions for solubilization of Tamm-Hors-fall protein/uromodulin in human urine and establishment of a sensitive and accurate enzyme-linked immunosorbent assay (ELISA) method. Arch Biochem Biophys 388: 113-120, 2001
21. Lynn KL, Shenkin A, Marshall RD: Factors affecting excretion of human urinary Tamm-Horsfall glycoprotein. Clin Sci (Lond) 62: 21-26, 1982
22. Dawnay AB, Thornley C, Cattell WR: An improved radioimmunoassay for urinary Tamm-Horsfall glycoprotein: Investigation and resolution of factors affecting its quantification. Biochem J 206: 461-465, 1982
23. Kannel WB, Feinleib M, McNamara PM, Garrison RJ, Castelli WP: An investigation of coronary heart disease in families. The Framingham Offspring Study. Am J Epidemiol 110: 281-290, 1979
24. National Kidney Foundation: K/DOQI clinical practice guidelines for chronic kidney disease: Evaluation, classification, and stratification. Am J Kidney Dis 39: S1-S266, 2002
25. The Atherosclerosis Risk in Communities (ARIC) Study: Design and objectives. The ARIC investigators. Am J Epidemiol 129: 687-702, 1989
26. Levey AS, Bosch JP, Lewis JB, Greene T, Rogers N, Roth D: A more accurate method to estimate glomerular filtration rate from serum creatinine: A new prediction equation. Modification of Diet in Renal Disease Study Group. Ann Intern Med 130: 461-470, 1999
27. Fox CS, Larson MG, Leip EP, Culleton B, Wilson PW, Levy D: Predictors of new-onset kidney disease in a community-based population. JAMA 291: 844-850, 2004
28. Coresh J, Astor BC, McQuillan G, Kusek J, Greene T, Van Lente F, Levey AS: Calibration and random variation of the serum creatinine assay as critical elements of using equations to estimate glomerular filtration rate. Am J Kidney Dis 39: 920-929, 2002
29. Fu Q, Garnham CP, Elliott ST, Bovenkamp DE, Van Eyk JE: A robust, streamlined, and reproducible method for proteomic analysis of serum by delipidation, albumin and IgG depletion, and two-dimensional gel electrophoresis. Proteomics 5: 2656-2664, 2005
30. Matt P, Fu Z, Carrel T, Huso DL, Dirnhofer S, Lefkovits I, Zerkowski HR, Van Eyk JE: Proteomic alterations in heat shock protein 27 and identification of phosphoproteins in ascending aortic aneurysm associated with bicuspid and tricuspid aortic valve. J Mol Cell Cardiol 43: 792-801, 2007