Association between genetic polymorphisms of the NPHS1 gene and membranous glomerulonephritis in the Taiwanese population

Clinica Chimica Acta

Volumn 411, Issue 9-10, 2010, Pages 714-718

  Lo Wan Yu, W Y ^a,b   Chen, Shih Yin ^a,b   Wang, Huang Joe ^b   Shih, Hung Chang ^a   Chen, Cheng Hsu ^c   Tsai, Chang Hai ^d   Tsai Fuu Jen, F J ^a,b  

^a CHINA MEDICAL UNIVERSITY   (Taiwan)

^b CHINA MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

^c TAICHUNG VETERANS GENERAL HOSPITAL   (Taiwan)

^d ASIA UNIVERSITY   (Taiwan)

Author keywords

Gene polymorphism; Membranous glomerulonephritis; NPHS1; Remission

Indexed keywords

ANGIOTENSIN RECEPTOR ANTAGONIST; CHLORAMBUCIL; CORTICOSTEROID; CYCLOPHOSPHAMIDE; CYCLOSPORIN A; DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR; DIURETIC AGENT; GENOMIC DNA; IMMUNOSUPPRESSIVE AGENT; NEPHRIN; PREDNISOLONE;

5' UNTRANSLATED REGION; ADULT; AGED; ARTICLE; CHROMOSOME; COHORT ANALYSIS; CONTROLLED STUDY; DISEASE COURSE; DNA EXTRACTION; EXON; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENOTYPE; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MEMBRANOUS GLOMERULONEPHRITIS; PRIORITY JOURNAL; REMISSION; SINGLE NUCLEOTIDE POLYMORPHISM; TAIWAN; TREATMENT RESPONSE;

5' UNTRANSLATED REGIONS; ADULT; AGED; AGED, 80 AND OVER; CREATININE; FEMALE; GENE FREQUENCY; GENOTYPE; GLOMERULONEPHRITIS, MEMBRANOUS; HAPLOTYPES; HEMATURIA; HETEROZYGOTE; HOMOZYGOTE; HUMANS; IMMUNOSUPPRESSIVE AGENTS; MALE; MEMBRANE PROTEINS; MIDDLE AGED; OPEN READING FRAMES; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEINURIA; TAIWAN; TREATMENT OUTCOME;

EID: 77950461659     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cca.2010.02.004     Document Type: Article

References (36)

1. Chen C.H., Shu K.H., Wen M.C., et al. Impact of plasminogen activator inhibitor-1 gene polymorphisms on primary membranous nephropathy. Nephrol Dial Transplant 2008, 23:3166-3173.
2. Wasserstein A.G. Membranous glomerulonephritis. J Am Soc Nephrol 1997, 8:664-674.
3. Glassock R.J. Diagnosis and natural course of membranous nephropathy. Semin Nephrol 2003, 23:324-332.
4. Couser W.G. Membranous nephropathy: a long road but well traveled. J Am Soc Nephrol 2005, 16:1184-1187.
5. Nangaku M., Shankland S.J., Couser W.G. Cellular response to injury in membranous nephropathy. J Am Soc Nephrol 2005, 16:1195-1204.
6. Huber T.B., Kottgen M., Schilling B., et al. Interaction with podocin fecilitates nephrin signaling. J Biol Chem 2001, 276:41543-41546.
7. Wartiovaara J., Ofverstedt L.G., Khoshnoodi J., et al. Nephrin strands contribute to a porous slit diaphragm scaffold as revealed by electron tomography. J Clin Invest 2004, 114:1475-1483.
8. Patrakka J., Tryggvason K. Nephrin-a unique structural and signaling protein of the kidney filter. Trends Mol Med 2007, 13:396-403.
9. Huber T.B., Benzing T. The slit diaphragm: a signaling platform to regulate podocyte function. Curr Opin Nephrol Hypertens 2005, 14:211-216.
10. Zenker M., Machuca E., Antignac C. Genetics of nephrotic syndrome: new insights into molecules acting at the glomerular filtration barrier. J Mol Med 2009, 87:849-857.
11. Kestila M., Lenkkeri U., Mannikko M., et al. Positionally cloned gene for a novel glomerular protein-nephrin-is mutated in congenital nephrotic syndrome. Mol Cell 1998, 1:575-582.
12. Lahdenkari A.T., Kestila M., Holmberg C., et al. Nephrin gene (NPHS1) in patients with minimal change nephrotic syndrome (MCNS). Kidney Int 2004, 65:1856-1863.
13. Beltcheva O., Martin P., Lenkkeri U., et al. Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome. Hum Mutat 2001, 17:368-373.
14. Koziell A., Grech V., Hussain S., et al. Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration. Hum Mol Genet 2002, 11:379-388.
15. Lahdenkari A.T., Kestilä M., Holmberg C. Nephrin gene (NPHS1) in patients with minimal change nephrotic syndrome (MCNS). Kidney Int 2004, 65:1856-1863.
16. Mao J., Zhang Y., Du L., et al. NPHS1 and NPHS2 gene mutations in Chinese children with sporadic nephrotic syndrome. Pediatr Res 2007, 61:117-122.
17. Niaudet P. Genetic forms of nephrotic syndrome. Pediatr Nephrol 2004, 19:1313-1318.
18. Franceschini N., North K.E., Kopp J.B., et al. NPHS2 gene, nephrotic syndrome and focal segmental glomerulosclerosis: a HuGE review. Genet Med 2006, 8:63-75.
19. Barrett J.C., Fry B., Maller J., et al. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 2005, 21:263-265.
20. Short C., Mallick N. Membranous nephropathy. Massry & Glassock's Textbook of Nephrology 2001, 726-734. Williams & Wilkins Press, Baltimore, USA. S.G. Massry, R.J. Glassock (Eds.).
21. Wu T.H., Tsai C.Y., Yang W.C. Excessive expression of the tumor necrosis factor-α gene in the kidneys of patients with membranous glomerulonephropathy. Chin Med J (Taipei) 1998, 61:524-530.
22. Banis C., Heering P.J., Aker S., et al. Tumor necrosis factor-alpha gene G-308A polymorphism is a risk factor for the development of membranous glomerulonephritis. Am J Nephrol 2006, 26:12-15.
23. Cattran D.C. Idiopathic membranous glomerulonephritis. Kidney Int 2001, 59:1983-1994.
24. Stratta P., Bermond F., Guarrera S., et al. Interaction between gene polymorphisms of nitric oxide synthase and renin-angiotensin system in the progression of membranous glomerulonephritis. Nephrol Dial Transplant 2004, 19:587-595.
25. Koziell A., Grech V., Hussain S., et al. Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephritic syndrome advocate a functional inter-relationship in glomerular filtration. Hum Mol Genet 2002, 11:379-388.
26. Caridi G., Bertelli R., Di Duca M., et al. Broadening the spectrum of diseases related to podocin mutations. J Am Soc Nephrol 2003, 14:1278-1286.
27. Schultheiss M., Ruf R.G., Mucha B.E., et al. No evidence for genotype/phenotype correlation in NPHS1 and NPHS2 mutations. Pediatr Nephrol 2004, 19:1340-1348.
28. Lenkkeri U., Mannikko M., McCready P., et al. Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS 1) and characterization of mutations. Am J Hum Genet 1999, 64:51-61.
29. Ruotsalainen V., Ljungberg P., Wartiovaara J., et al. Nephrin is specifically located at the slit diaphragm of glomerular podocytes. Proc Natl Acad Sci USA 1999, 96:7962-7967.
30. Putaala H., Soininen R., Kilpelaine P., et al. The murine nephrin gene is specifically expressed in kidney, brain and pancreas: inactivation of the gene leads to massive proteinuria and neonatal death. Hum Mol Genet 2001, 10:1-8.
31. Topham P.S., Kawachi H., Haydar S.A., et al. Nephritogenic mAb 5-1-6 is directed at the extracellular domain of rat nephrin. J Clin Invest 1999, 104:1559-1566.
32. Kawachi H., Koike H., Kurihara H., et al. Cloning of rat nephrin: expression in developing glomeruli and in proteinuric states. Kidney Int 2000, 57:1949-1961.
33. Luimula P., Aaltonen P., Ahola H., et al. Alternatively spliced nephrin in experimental glomerular disease of the rat. Pediatr Res 2000, 48:759-762.
34. Doublier S., Ruotsalainen V., Salvidio G., et al. Nephrin redistribution on podocytes is a potential mechanism for proteinuria in patients with primary acquired nephrotic syndrome. Am J Pathol 2001, 158:1723-1731.
35. Ning H., Alireza Z., Yan M., et al. Recessive NPHS2 (podocin) mutations are rare in adult-onset idiopathic focal segmental glomerulosclerosis. Clin J Am Soc Nephrol 2007, 2:31-37.
36. Mao J., Zhang Y., Du L., et al. NPHS1 and NPHS2 gene mutations in Chinese children with sporadic nephrotic syndrome. Pediatric Res 2007, 61:117-122.