Evaluation of NPHS2 gene polymorphism (R229Q) in chronic kidney disease patients
Mohamed rashid, A., Elsayed sheir, R., Mohamed Ahmed, T., Mohamed Farhan, H. (2021). Evaluation of NPHS2 gene polymorphism (R229Q) in chronic kidney disease patients. EKB Journal Management System, 2(2), 20-30. doi: 10.21608/ejmr.2021.174556
Ahmed Mohamed rashid; Rania Elsayed sheir; Thoraya Mohamed Ahmed; Hanan Mohamed Farhan. "Evaluation of NPHS2 gene polymorphism (R229Q) in chronic kidney disease patients". EKB Journal Management System, 2, 2, 2021, 20-30. doi: 10.21608/ejmr.2021.174556
Mohamed rashid, A., Elsayed sheir, R., Mohamed Ahmed, T., Mohamed Farhan, H. (2021). 'Evaluation of NPHS2 gene polymorphism (R229Q) in chronic kidney disease patients', EKB Journal Management System, 2(2), pp. 20-30. doi: 10.21608/ejmr.2021.174556
Mohamed rashid, A., Elsayed sheir, R., Mohamed Ahmed, T., Mohamed Farhan, H. Evaluation of NPHS2 gene polymorphism (R229Q) in chronic kidney disease patients. EKB Journal Management System, 2021; 2(2): 20-30. doi: 10.21608/ejmr.2021.174556

Evaluation of NPHS2 gene polymorphism (R229Q) in chronic kidney disease patients

Egyptian Journal of Medical Research
Article 3, Volume 2, Issue 2 - Serial Number 1, June 2021, Page 20-30  XML PDF (503.27 K)
Document Type: Original Article
DOI: 10.21608/ejmr.2021.174556
View on SCiNiTO View on SCiNiTO
Authors
Ahmed Mohamed rashid1; Rania Elsayed sheir1; Thoraya Mohamed Ahmed1; Hanan Mohamed Farhan2
1Internal medicine department, Faculty of Medicine, Beni-Suef University, Egypt
2Chemical and clinical pathology department, Faculty of Medicine, Beni-Suef University, Egypt
Abstract
The aim of this study was to evaluate the role of nephrotic syndrome 2 (NPHS2) gene polymorphism (R229Q) in chronic kidney disease which has unclear etiology.
This study was conducted on 80 CKD patients compared with 40 age and sex matched normal volunteers acting as a control group. All of them underwent renal function tests and were assessed for the presence of NPHS2 gene polymorphism. We noticed that (R229Q) is a common variant in Egyptian population. Its concentration was (62.5%) in CKD patients and (55%) in control group. There was no significant difference with p-value > 0.05 between patients and control groups as regards to NPHS2 genotypes and alleles.
Keywords
Chronic kidney disease ˗ NPHS2 gene polymorphism
References
  1. Levey AS, Schoolwerth AC, Burrows NR, Williams DE, Stith KR, McClellan W.(2009): Comprehensive public health strategies for preventing the development, progression, and complications of CKD (2009): Report of an expert panel convened by the Centers for Disease Control and Prevention. Am. J. Kidney Dis.; 53: 522–35.
  2. Stigant C, Steven L and Levin A. (2003): Nephrology: 4 strategies for the care of adults with chronic kidney disease. CMAJ;168:1553-60
  3. Zhang L, Yuan Z, Maddock JE, Zou J, Zheng Z, Zhou W, Zheng H (2014): Chronic disease prevalence and influencing factors among rural residents in Jiangxi. China Int Health. 2014;6(2):106–111.
  4. Ojo A.(2014): Addressing the Global Burden of Chronic Kidney Disease Through Clinical and Translational Research. Transactions of the American Clinical and Climatological Association. 125:229-246.
  5. Roselli S, Heidet L, Sich M, Henger A, Kretzler M, Gubler M.-C, Antignac C.(2004): Early glomerular filtration defect and severe renal disease in podocin-deficient mice. Molec. Cell. Biol. 24: 550-560.
  6. Mahwish UN, Jaffer AT, Mughni Chisti GM, Siraj M, Raju SB, et al.(2014):  A Preliminary Study on NPHS2 Gene Polymorphism (R229Q) in Diabetic Nephropathy Patients from South India. J Cell Sci Molecul Biol. 1(2): 108.
  7. Schönenberger E, Ehrich JH, Haller1 H, Schiffer M (2011): The podocyte as a direct target of immunosuppressive agents. Nephrol Dial Transplant 26 (1): 18-24.
  8. Bouchireb K, Boyer O, Gribouval O, Nevo F, Huynh-Cong E, Morinière V, et al.(2014): NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum. Hum Mutat. 35:178–86.
  9. Reiterova J, Safrankova H, Obeidova L, Stekrova J, Maixnerova D, et al. (2012): Mutational analysis of the NPHS2 gene in Czech patients with idiopathic nephrotic syndrome. Folia Biol (parah) 58: 64-68.
  10. Knapp RG, Miller MC. Clinical epidemiology and biostatistics. Published by Williams &​ Wilkins; Malvern, Pa. : Harwal Pub. Co., C.
  11. Yang SH, Dou KF, Song WJ (2010): Prevalence of diabetes among men and women in China. N Engl J Med. 362(25):2425-6.
  12. Zhang L, Yuan Z, Maddock JE, Zou J, Zheng Z, Zhou W, Zheng H (2014): Chronic disease prevalence and influencing factors among rural residents in Jiangxi. China Int Health. 2014;6(2):106–111.
  13. Divers J, Freedman BI.(2010): Susceptibility genes in common complex kidney disease. Current opinion in nephrology and hypertension. 19(1):79-84.       
  14. Köttgen A,  Hsu CC,  Coresh J,  Shuldiner AR,  Berthier-Schaad Y,  Gambhir TR,  Smith MW et al., (2008): The Association of Podocin R229Q Polymorphism with Increased Albuminuria or Reduced Estimated GFR in a Large Population-Based Sample of US Adults. AJKD.25(5):868-875.
  15. Dusel JA, Burdon KP, Hicks PJ, Hawkins GA, Bowden DW, Freedman BI.(2005): Identification of podocin (NPHS2) gene mutations in African Americans with nondiabetic end-stage renal disease. Kidney Int. 68:256-62.
  16. Santin S, Vega BT,  Silva I, Cobo MÁ, Giménez I, Ruíz P, Maset RG,  Ballarín J, Torra R, Ars E. (2011): Clinical Value of NPHS2 Analysis in Early- and Adult-Onset Steroid-Resistant Nephrotic Syndrome. Clin J Am Soc Nephrol; 6(2): 344–354.
  17. Tryggvason K, Patrakka J, Wartiovaara J.(2006): Hereditary proteinuria syndromes and mechanisms of proteinuria. N Engl J Med. 354:1387-401.
Statistics
Article View: 283
PDF Download: 235