NPHS2 variation in sporadic focal segmental glomerulosclerosis

Journal of the American Society of Nephrology

Volumn 18, Issue 11, 2007, Pages 2987-2995

  McKenzie, Louise M ^a   Hendrickson, Sher L ^b   Briggs, William A ^c   Dart, Richard A ^d   Korbet, Stephen M ^e   Mokrzycki, Michelle H ^f   Kimmel, Paul L ^g   Ahuja, Tejinder S ^h   Berns, Jeffrey S ⁱ   Simon, Eric E ^j   Smith, Michael C ^k   Trachtman, Howard ^l   Michel, Donna M ^m   Schelling, Jeffrey R ⁿ   Cho, Monique ^o   Zhou, Yu C ^a   Binns Roemer, Elizabeth ^a   Kirk, Gregory D ^p   Kopp, Jeffrey B ^o   Winkler, Cheryl A ^a,b  

^a SAIC FREDERICK INC   (United States)

^b NATIONAL CANCER INSTITUTE   (United States)

^c WILLIAM BEAUMONT HOSPITAL   (United States)

^d MARSHFIELD CLINIC   (United States)

^e RUSH UNIVERSITY MEDICAL CENTER   (United States)

^f ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^g GEORGE WASHINGTON UNIVERSITY SCHOOL OF MEDICINE AND HEALTH SCIENCES   (United States)

^h University of Texas Medical Branch School of Medicine   (United States)

ⁱ UNIVERSITY OF PENNSYLVANIA   (United States)

^j TULANE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^k UNIVERSITY HOSPITALS OF CLEVELAND   (United States)

^l SCHNEIDER CHILDREN'S HOSPITAL   (United States)

^m Hypertension and Kidney Specialists   (United States)

ⁿ CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^o NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES   (United States)

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

more..

Author keywords

[No Author keywords available]

Indexed keywords

PODOCIN;

3' UNTRANSLATED REGION; ADULT; AFRICAN AMERICAN; ARTICLE; CONTROLLED STUDY; EUROPEAN AMERICAN; FEMALE; FOCAL GLOMERULOSCLEROSIS; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; INTRON; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 35848939398     PISSN: 10466673     EISSN: None     Source Type: Journal    
DOI: 10.1681/ASN.2007030319     Document Type: Article

References (29)

1. Schnaper HW: Idiopathic focal segmental glomerulosclerosis. Semin Nephrol 23: 183-193, 2003
2. Kitiyakara C, Eggers P, Kopp JB: Twenty-one-year trend in ESRD due to focal segmental glomerulosclerosis in the United States. Am J Kidney Dis 44: 815-825, 2004
3. Pollak MR: The genetic basis of FSGS and steroid-resistant nephrosis. Semin Nephrol 23: 141-146, 2003
4. Niaudet P: Podocin and nephrotic syndrome: Implications for the clinician. J Am Soc Nephrol 15: 832-834, 2004
5. Fuchshuber A, Gribouval O, Ronner V, Kroiss S, Karle S, Brandis M, Hildebrandt F: Clinical and genetic evaluation of familial steroid-responsive nephrotic syndrome in childhood. J Am Soc Nephrol 12: 374-378, 2001
6. Ruf RG, Lichtenberger A, Karle SM, Hass JP, Anacleto FE, Schultheiss M, Zalewski I, Imm A, Ruf EM, Mucha B, Bagga A, Neuhaus T, Fuchshuber A, Bakkaloglu A, Hildebrandt F, Arbeitsgemeinschaft fuer Paeiatrische Nephrologie Study Group: Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome. J Am Soc Nephrol 15: 722-732, 2004
7. Tsukaguchi H, Sudhakar A, Le TC, Nguyen T, Yao J, Schwimmer JA, Schachter AD, Poch E, Abreu PF, Appel GB, Pereira AB, Kalluri R, Pollack MR: NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele. J Clin Invest 110:1659-1666, 20029
8. Smithies O: Why the kidney glomerulus does not clog: A gel permeation/diffusion hypothesis of renal function. Proc Natl Acad Sci U S A 100: 4108-4113, 2003
9. Huber TB, Koettgen M, Schilling B, Walz G, Benzing T: Interaction with podocin facilitates nephrin signaling. J Biol Chem 276: 41543-41546, 2001
10. Schwarz K, Simons M, Reiser J, Saleem MA, Faul C, Kriz W, Shaw AS, Holzman LB, Mundel P: Podocin, a raft-associated component of the glomerular slit diaphragm, interacts with CD2AP and nephrin. J Clin Invest 108: 1621-1629, 2001
11. Weber S, Gribouval O, Esquivel EL, Morinière V, Tête MJ, Legendre C, Niaudet P, Antignac C: NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence. Kidney Int 66: 571-579, 2004
12. Franceschini N, North KE, Kopp JB, McKenzie L, Winkler CA: NPHS2 gene, nephrotic syndrome and focal segmental glomerulosclerosis: A HuGE review. Genet Med 8: 63-75, 2006
13. Huber TB, Simons M, Hartleben B, Sernetz L, Schnidts M, Gundlach E, Saleem MA, Walz G, Benzing T: Molecular basis of the functional podocin-nephrin complex: mutations in the NPHS2 gene disrupt nephrin targeting to lipid raft microdomains. Hum Mol Genet 12: 3397-3405, 2003
14. Pereira AC, Pereira AB, Mota GF, Cunha RS, Herkenhoff FL, Pollak MR, Mill JG: NPHS2 R229q functional variant is associated with microalbuminuria in the general population. Kidney Int 65: 1026-1030, 2004
15. Caridi G, Bertelli R, Carrea A, Di Duca M, Catarsi P, Artero M, Carraro M, Zennaro C, Candiano G, Musante L, Seri M, Ginevri F, Perfumo F, Ghiggeri GM: Prevalence, genetics, and clinical features of patients carrying podocin mutations in steroid-resistant nonfamilial focal segmental glomerulosclerosis. J Am Soc Nephrol 12: 2742-2746, 2001
16. Frishberg Y, Rinat C, Megged O, Shapira E, Feinstein S, Rass-Rothschild A: Mutations in NPHS2 encoding podocin are a prevalent cause of steroid-resistant nephrotic syndrome among Israeli-Arab children. J Am Soc Nephrol 13: 400-405, 2002
17. Yu Z, Ding J, Huang J, Yao Y, Xiao H, Zhang J, Liu J, Yang J: Mutations in NPHS2 in sporadic steroid-resistant nephrotic syndrome in Chinese children. Nephrol Dial Transplant 20: 902-908, 2005
18. Kopp JB, Winkler C: HIV-associated nephropathy in African Americans. Kidney Int Suppl S43-S49, 2003
19. Eggers PW, Kimmel PL: Is there an epidemic of HIV infection in the US ESRD program? J Am Soc Nephrol 15: 2477-2485, 2004
20. Freedman BI, Soucie JM, Stone SM, Pegram S: Familial clustering of end-stage renal disease in blacks with HIV-associated nephropathy. Am J Kidney Dis 34: 254-258, 1999
21. Dusel JA, Burdon KP, Hicks PJ, Hawkins GA, Bowden DW, Freedman BI: Identification of podocin (NPHS2) gene mutations in African Americans with nondiabetic end-stage renal disease. Kidney Int 68: 256-262, 2005
22. Storey JD, Tibshirani R: Statistical significance for genomewide studies. Proc Natl Acad Sci U S A 100: 9440-9445, 2003
23. Caridi G, Bertelli R, Di Duca M, Dagnino M, Emma F, Muda AO, Scolari F, Miglietti N, Mazzucco G, Murer L, Carrea A, Massella L, Rizzoni G, Perfumo F, Ghiggeri GM: Broadening the spectrum of diseases related to podocin mutations. J Am Soc Nephrol 14: 1278-1286, 2003
24. Boute N, Gribouval O, Roselli S, Benessy F, Lee H, Fuchshuber A, Dahan K, Gubler MC, Niaudet P, Antignac C: NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. Nat Genet 24: 349-354, 2000
25. Orloff MS, Iyengar SK, Winkler CA, Goddard KAB, Dart RA, Ahuja TS, Mokrzycki M, Briggs WA, Korbet SM, Kimmel PL, Simon EE, Trachtman H, Vlahov D, Michel DM, Berns JS, Smith MC, Schelling JR, Sedor JR, Kopp JB: Variants in the Wilms' tumor gene are associated with focal segmental glomerulosclerosis in the African American population. Physiol Genomics 21: 212-221, 2005
26. Stephens M, Smith N, Donnelly P: A new statistical method for haplotype reconstruction from population data. Am J Hum Genet 68: 978-989, 2001
27. Stephens M, Donnelly P: A comparison of Bayesian methods for haplotype reconstruction from population genotype data. Am J Hum Genet 73: 1162-1169, 2003
28. R Development Core Team: R: A Language and Environment for Statistical Computing. R Foundation for Statistical Computing, Vienna, Austria, 2006. Available at: http://www.R-project.org
29. Barrett JC, Fry B, Maller J, Daly MJ: Haploview: Analysis and visualization of linkage disequilibrium and haplotype maps. Bioinformatics 21: 263-265, 2005