The association of a single-nucleotide polymorphism in CUBN and the risk of albuminuria and cardiovascular disease

Nephrology Dialysis Transplantation

Volumn 29, Issue 2, 2014, Pages 342-347

  McMahon, Gearoid M ^a,b   O'Seaghdha, Conall M ^a,c   Hwang, Shih Jen ^a   Meigs, James B ^d   Fox, Caroline S ^a,b  

^a FRAMINGHAM HEART STUDY   (United States)

^b BRIGHAM AND WOMEN S HOSPITAL   (United States)

^c BEAUMONT HOSPITAL   (Ireland)

^d MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

epidemiology

Indexed keywords

ALBUMIN;

ADULT; AGE DISTRIBUTION; ALLELE; ARTICLE; CARDIOVASCULAR DISEASE; CARDIOVASCULAR RISK; CONTROLLED STUDY; CUBN GENE; DISEASE ASSOCIATION; FEMALE; GENE; GENE EXPRESSION; GENE FREQUENCY; GENE IDENTIFICATION; GENETIC RISK; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; MICROALBUMINURIA; MIDDLE AGED; MUTATIONAL ANALYSIS; PREVALENCE; PRIORITY JOURNAL; SEX DIFFERENCE; SEX RATIO; SINGLE NUCLEOTIDE POLYMORPHISM;

EPIDEMIOLOGY;

ALBUMINURIA; ALLELES; CARDIOVASCULAR DISEASES; DNA; FEMALE; GENOTYPE; HUMANS; INCIDENCE; MALE; MIDDLE AGED; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; PREVALENCE; PROPORTIONAL HAZARDS MODELS; RECEPTORS, CELL SURFACE; RETROSPECTIVE STUDIES; RISK FACTORS; UNITED STATES;

EID: 84896722476     PISSN: 09310509     EISSN: 14602385     Source Type: Journal    
DOI: 10.1093/ndt/gft386     Document Type: Article

References (38)

1. Coresh J, Selvin E, Stevens LA et al. Prevalence of chronic kidney disease in the United States. JAMA 2007; 298: 2038-2047
2. Hallan SI, Ritz E, Lydersen S et al. Combining GFR and albuminuria to classify CKD improves prediction of ESRD. J Am Soc Nephrol 2009; 20: 1069-1077
3. Hillege HL, Fidler V, Diercks GF et al. Prevention of Renal and Vascular End Stage Disease Study Group. Urinary albumin excretion predicts cardiovascular and noncardiovascular mortality in general population. Circulation 2002; 106: 1777-1782
4. Arnlov J, Evans JC, Meigs JB et al. Low-grade albuminuria and incidence of cardiovascular disease events in nonhypertensive and nondiabetic individuals: The Framingham Heart Study. Circulation 2005; 112: 969-975
5. Smink PA, Lambers Heerspink HJ, Gansevoort RT et al. Albuminuria, estimated GFR, traditional risk factors, and incident cardiovascular disease: The PREVEND (Prevention of Renal and Vascular Endstage Disease) study. Am J Kidney Dis 2012; 60: 804-811
6. Hallan SI, Matsushita K, Sang Y et al. Age and association of kidney measures with mortality and end-stage renal disease. JAMA 2012; 308: 2349-2360
7. Fox CS, Yang Q, Guo CY et al. Genome-wide linkage analysis to urinary microalbuminuria in a community-based sample: The Framingham Heart Study. Kidney Int 2005; 67: 70-74
8. Boger CA, Chen MH, Tin A et al. Cubn is a gene locus for albuminuria. J Am Soc Nephrol 2011; 22: 555-570
9. Birn H, Fyfe JC, Jacobsen C et al. Cubilin is an albumin binding protein important for renal tubular albumin reabsorption. J Clin Invest 2000; 105: 1353-1361
10. Grasbeck R. Imerslund-grasbeck syndrome (selective vitamin b(12) malabsorption with proteinuria). Orphanet J Rare Dis 2006; 1: 17
11. Storm T, Emma F, Verroust PJ et al. A patient with cubilin deficiency. N Engl J Med 2011; 364: 89-91
12. Gross ML, Piecha G, Bierhaus A et al. Glycated and carbamylated albumin are more 'nephrotoxic' than unmodified albumin in the amphibian kidney. Am J Physiol Renal Physiol 2011; 301: F476-F485
13. Lee YJ, Han HJ. Albumin-stimulated DNA synthesis is mediated by Ca2+/PKC as well as EGF receptor-dependent p44/42 MAPK and NF-kappaB signal pathways in renal proximal tubule cells. Am J Physiol Renal Physiol 2008; 294: F534-F541
14. Erkan E, Devarajan P, Schwartz GJ. Apoptotic response to albumin overload: Proximal vs. distal/collecting tubule cells. Am J Nephrol 2005; 25: 121-131
15. Diwakar R, Pearson AL, Colville-Nash P et al. The role played by endocytosis in albumin-induced secretion of tgf-beta1 by proximal tubular epithelial cells. Am J Physiol Renal Physiol 2007; 292: F1464-F1470
16. O'Toole JF, Sedor JR. Are cubilin (CUBN) variants at the heart of urinary albumin excretion?. J Am Soc Nephrol 2011; 22: 404-406
17. Advani A, Wiggins KJ, Cox AJ et al. Inhibition of the epidermal growth factor receptor preserves podocytes and attenuates albuminuria in experimental diabetic nephropathy. Nephrology (Carlton, Vic.) 2011; 16: 573-581
18. Kannel WB, Feinleib M, McNamara PM et al. An investigation of coronary heart disease in families. The Framingham offspring study. Am J Epidemiol 1979; 110: 281-290
19. Splansky GL, Corey D, Yang Q et al. The Third Generation Cohort of the National Heart, Lung, and Blood Institute's Framingham Heart Study: Design, recruitment, and initial examination. Am J Epidemiol 2007; 165: 1328-1335
20. Levey AS, Stevens LA, Schmid CH et al. A newequation to estimate glomerular filtration rate. Ann Intern Med 2009; 150: 604-612
21. O'Seaghdha CM, Hwang SJ et al. Predictors of incident albuminuria in the Framingham Offspring cohort. Am J Kidney Dis 2010; 56: 852-860
22. Bonventre JV. Kidney injury molecule-1 (kim-1): A urinary biomarker and much more. Nephrol Dial Transplant 2009; 24: 3265-3268
23. Gorriz JL, Martinez-Castelao A. Proteinuria: Detection and role in native renal disease progression. Transplant Rev (Orlando, Fla.) 2012; 26: 3-13
24. Koltun M, Comper WD. Retention of albumin in the circulation is governed by saturable renal cell-mediated processes. Microcirculation (New York, N.Y. 1994) 2004; 11: 351-360
25. Amsellem S, Gburek J, Hamard G et al. Cubilin is essential for albumin reabsorption in the renal proximal tubule. J Am Soc Nephrol 2010; 21: 1859-1867
26. Smith BT, Mussell JC, Fleming PA et al. Targeted disruption of cubilin reveals essential developmental roles in the structure and function of endoderm and in somite formation. BMC Dev Biol 2006; 6: 30
27. Ovunc B, Otto EA, Vega-Warner V et al. Exome sequencing reveals cubilin mutation as a single-gene cause of proteinuria. J Am Soc Nephrol 2011; 22: 1815-1820
28. Prabakaran T, Christensen EI, Nielsen R et al. Cubilin is expressed in rat and human glomerular podocytes. Nephrol Dial Transplant 2012; 27: 3156-3159
29. Ahuja R, Yammani R, Bauer JA et al. Interactions of cubilin with megalin and the product of the amnionless gene (AMN): Effect on its stability. Biochem J 2008; 410: 301-308
30. Stehouwer CD, Yudkin JS, Fioretto P et al. How heterogeneous is microalbuminuria in diabetes mellitus?. The case for 'benign' and 'malignant' microalbuminuria. Nephrol Dial Transplant 1998; 13: 2751-2754
31. Hemmelder MH, de Jong PE, de Zeeuw D. A comparison of analytic procedures for measurement of fractional dextran clearances. J Lab Clin Med 1998; 132: 390-403
32. Gibb DM, Tomlinson PA, Dalton NR et al. Renal tubular proteinuria and microalbuminuria in diabetic patients. Arch Dis Child 1989; 64: 129-134
33. Ishibashi F. Microalbuminuria in NIDDM is caused by increased excretion of unmodified albumin. Diabetes 1996; 45: 731-735
34. Gekle M, Knaus P, Nielsen R et al. Transforming growth factor-beta1 reduces megalin-And cubilin-mediated endocytosis of albumin in proximal-Tubule-derived opossum kidney cells. J Physiol 2003; 552: 471-481
35. Mena-Martin FJ, Martin-Escudero JC, Simal-Blanco F et al. Influence of sympathetic activity on blood pressure and vascular damage evaluated by means of urinary albumin excretion. J Clin Hypertens (Greenwich, Conn.) 2006; 8: 619-624
36. Maritzen T, Rickheit G, Schmitt A et al. Kidney-specific upregulation of vitamin d3 target genes in clc-5 ko mice. Kidney Int 2006; 70: 79-87
37. Kim SS, Song SH, Kim IJ et al. Urinary cystatin c and tubular proteinuria predict progression of diabetic nephropathy. Diabetes Care 2013; 36: 656-661
38. Russo LM, Sandoval RM, Campos SB et al. Impaired tubular uptake explains albuminuria in early diabetic nephropathy. J Am Soc Nephrol 2009; 20: 489-494