PL EN


Preferences help
enabled [disable] Abstract
Number of results
2012 | 66 | 4 | 17–23
Article title

Infl uence of erythropoietin gene promoter polymorphism rs 1617640 on the incidence and progression of chronic kidney disease; a family-based study

Content
Title variants
PL
Wpływ polimorfi zmu rs 1617640 promotora genu erytropoetyny na występowanie i progresję przewlekłej choroby nerek; badania rodzinne
Languages of publication
EN
Abstracts
EN
INTRODUCTION The aetiology of chronic kidney disease (CKD) and its progression are multifactorial in nature. A number of reports have demonstrated the nonhaematological local protective properties of erythropoietin in diff erent tissues, including those in the kidneys. The primary goal of the reported, family-based study was to assess the infl uence of rs 1617640 erythropoietin gene promoter polymorphism on the incidence and progression of CKD. MATERIAL AND METHODS For that purpose, 109 patients with CKD (72.5% with chronic interstitial nephritis and 27.5% with chronic glomerulonephritis) and their parents were examined. At the time of the study, the mean glomerular fi ltration rate was 28.2 ml/min and 53.2% patients were maintained on renal replacement therapy. Fluorescence labelled probes of the TaqMan Pre-designed SNP Genotyping Assay (Applied Biosystems Company) were used for rs1617640 polymorphism investigation. RESULTS The genome distribution of rs 1617640 polymorphism of the erythropoietin gene promoter was: 48.6% AC, 25.7% AA and 25.7% CC patients. Based on Transmission Disequilibrium Test results, the bordeline statistical signifi cance of preferential C allele transfer from parents to their aff ected children with glomerulonephritis was observed. CONCLUSIONS No infl uence of rs 1617640 promoter polymorphism of the erythropoietin gene on the incidence of CKD in the course of chronic interstitial nephritis was observed. The bordeline signifi cance of preferential C allele transfer in patients with glomerulonephritis suggests association between rs1617640 and CKD of this aethiology.
PL
WSTĘP Etiologia przewlekłego uszkodzenia nerek oraz jego progresji jest wieloczynnikowa. Prace ostatnich lat dowodzą znaczenia pozaszpikowego miejscowego działania ochronnego erytropoetyny w wielu tkankach, w tym także w nerkach. Celem pracy była ocena w modelu rodzinnym wpływu polimorfizmu rs1617640 promotora genu dla erytropoetyny na rozwój i progresję przewlekłej choroby nerek. MATERIAŁ I METODY Badania przeprowadzono w grupie 109 chorych na przewlekłą chorobę nerek w przebiegu przewlekłego śródmiąższowego zapalenia nerek (72,5%) i przewlekłego kłębuszkowego zapalenia nerek (27,5%) oraz u 218 ich biologicznych rodziców. W momencie prowadzenia badania średnia filtracja kłębuszkowa (GFR) wynosiła 28,2 ml/min, a 53,2% chorych było leczonych nerkozastępczo. Genotypowanie polimorfizmu rs1617640 w promotorze genu erytropoetyny wykonano, wykorzystując znakowane fluorescencyjnie sondy z zestawu TaqMan Pre-designed SNP Genotyping Assay firmy Applied Biosystems. WYNIKI Analizując rozkład genotypów badanego polimorfizmu, stwierdzono: u 48,6% chorych genotyp AC, a u pozostałych chorych w równym procencie (po 25,7%) genotyp AA i CC. W teście TDT (Transmission Disequilibrium Test) wykazano na granicy istotności statystycznej przekazywanie preferencyjne allelu C w grupie chorych z przewlekłym kłębuszkowym zapaleniem nerek. WNIOSKI Nie obserwowano wpływu polimorfizmu rs1617640 genu promotora dla erytropoetyny na występowanie przewlekłego uszkodzenia nerek w przebiegu przewlekłego środmiąższowego zapalenia nerek. Stwierdzone na granicy istotności statystycznej, preferencyjne przekazywanie allelu C w grupie chorych na przewlekłe kłębuszkowe zapalenie nerek, sugeruje związek rs1617640 z przewlekłą chorobą nerek o tej etiologii.
Discipline
Year
Volume
66
Issue
4
Pages
17–23
Physical description
Contributors
  • Department of Internal Medicine, Diabetology and Nephrology School of Medicine with the Division of Dentistry in Zabrze Medical University of Silesia in Katowice 3 Maja 13/15 Street 41-800 Zabrze tel. +48 32 370 44 88 fax +48 32 271 46 17 e-mail: jzywiec@sum.
  • Department of Paediatric Nephrology, Medical University in Wrocław
  • Department of Internal Medicine, Diabetology and Nephrology, School of Medicine with the Division of Dentistry in Zabrze Medical University of Silesia in Katowice
  • Department of Internal Medicine, Diabetology and Nephrology, School of Medicine with the Division of Dentistry in Zabrze Medical University of Silesia in Katowice
  • Department of Internal Medicine, Diabetology and Nephrology, School of Medicine with the Division of Dentistry in Zabrze Medical University of Silesia in Katowice
  • Department of Internal Medicine, Diabetology and Nephrology, School of Medicine with the Division of Dentistry in Zabrze Medical University of Silesia in Katowice
References
  • 1. Fried W. Erythropoietin and erythropoiesis. Exp. Hematol. 2009; 37: 1007–1015.
  • 2. Anagnostou A., Liu Z., Steiner M. et al. Erythropoietin receptor mRNA expression in human endothelial cells. Proc. Natl. Acad. Sci. USA 1994; 91: 3974–3978.
  • 3. Bahlmann F.H., Fliser D. Erythropoietin and renoprotection. Curr. Opin. Nephrol. Hypertens. 2009; 18: 15–20.
  • 4. Chen J., Connor K.M., Aderman C.M., Smith L.E. Erythropoietin defi ciency decreases vascular stability in mice. J. Clin. Invest. 2008; 118: 526–533.
  • 5. Salahudeen A.K., Haider N., Jenkins J. et al. Antiapoptotic properties of erythropoiesis- stimulating proteins in models of cisplatin-induced acute kidney injury. Am. J. Physiol. Renal. Physiol. 2008; 294: F1354–F1365.
  • 6. Brines M., Cerami A. Erythropoietin- -mediated tissue protection: reducing collateral damage from the primary injury response. J. Intern. Med. 2008; 264: 405–432.
  • 7. Erbayraktar Z., Erbayraktar S., Yilmaz O., Cerami A., Coleman T., Brines M. Nonerythropoietic tissue protective compounds are highly eff ective facilitators of wound healing. Mol. Med. 2009; 15: 235–241.
  • 8. Brines M. The therapeutic potential of erythropoiesis-stimulating agents for tissue protection: a tale of two receptors. Blood Purif. 2010; 29: 86–92.
  • 9. Hand C.C., Brines M. Promises and pitfalls in erythopoietin-mediated tissue protection: are nonerythropoietic derivatives a way forward? J. Investig. Med. 2011; 59: 1073–1082.
  • 10. Singh A.K., Szczech L., Tang K.L. et al. Correction of anemia with epoetin alfa in chronic kidney disease. N. Engl. J. Med. 2006; 355: 2085–2098.
  • 11. Bahlmann F.H., Kielstein J.T., Haller H., Fliser D. Erythropoietin and progression of CKD. Kidney Int. 2007; Suppl. 107: S21–S25.
  • 12. Song Y.R., Lee T., You S.J. et al. Prevention of acute kidney injury by erythropoietin in patients undergoing coronary artery bypass grafting: a pilot study. Am. J. Nephrol. 2009; 30: 253–260.
  • 13. Toyeux-Faure M. Cellular protection by erythropoietin: New therapeutic implications? J. Pharmacol. Exp. Therapy 2007; 323: 759–762
  • 14. Vesey D.A., Cheung C., Pat B., Endre Z., Gobé G., Johnson D.W. Erythropoietin protects against ischaemic acute injury. Nephrol. Dial. Transplant. 2004; 19: 348–355.
  • 15. Bi B., Guo J., Marlier A., Lin S.R., Cantley L.G. Erythropoietin expands a stromal cell population that can mediate renopro-tection. Am. J. Physiol. Physiol. 2008; 295: F1017–F1021.
  • 16. Breggia A.C., Wojchowski D.M., Himmelfarb J. JAK2/Y343/STAT5 signaling axis is required for erythropoietin-mediated protection against ischemic injury in primary tubular epithelial cells. Am. J. Physiol. Renal. Physiol. 2008; 295: F1689–F1695.
  • 17. Chatterjee P.K. Pleiotropic actions of erythropoietin. Lancet 2005; 365: 1890–1892.
  • 18. Fujiwara N., Nakamura T., Sato E. et al. Renovascular protective eff ects of erythropoietin in patients with chronic kidney disease. Intern. Med. 2011; 50: 1929–1234.
  • 19. Garcia D.L., Anderson S., Rennke H.G., Brenner B.M. Anemia lessens and its prevention with recombinant human erythropoietin worsens glomerular injury and hypertension in rats with reduced mass. Proc. Natl. Acad. Sci. USA 1988; 85: 6142–6146.
  • 20. Kasap B., Soylu A., Kuralay F. et al. Protective eff ect of EPO on oxidative injury in rats with cyclosporine nephrotoxicity. Pediatr. Nephrol. 2008; 23: 1991–1999
  • 21. Levey A.S., Atkins R., Coresh J. et al. Chronic kidney disease as a global public health problem: approaches and initiatives – a position statement from Kidney Disease Improving Global Outcomes. Kidney Int. 2007; 72: 247–259.
  • 22. Eckardt K.U., Bernhardt W.M., Weidemann A. et al. Role of hypoxia in the pathogenesis of disease. Kidney Int. Suppl. 2005; 68: S46–S51.
  • 23. Bowden D.W. Genetics of kidney disease. Kidney Int. 2003; Suppl. 83: S8–S12.
  • 24. de Borst M.H., Benigni A., Remuzzi G. Strategies for identifying genes involved in disease. Nat. Clin. Pract. Neph. 2008; 4: 265–276.
  • 25. Kankova K., Stejskalova A., Pacal L. et al. Genetic risk factors for diabetic nephropathy on chromosomes 6p and 7q identifi ed by the set-association approach. Diabetologia 2007; 50: 990–999.
  • 26. Köttgen A., Glazer N.L., Dehghan A. et al. Multiple loci associated with indices of function and chronic kidney disease. Nat. Genet. 2009; 41: 712–717.
  • 27. Tong Z., Yang Z., Patel S. et al. Promoter polymorphism of the erythropoietin gene in severe diabetic eye and kidney complications. Proc. Natl. Acad. Sci. USA. 2008; 105: 6998–7003.
  • 28. Köttgen A., Pattaro C., Böger C.A. et al. New loci associated with kidney function and chronic kidney disease: The CKDGen consortium. Nat. Genet. 2010; 42: 376–384.
  • 29. Kitamura H., Isaka Y., Takabatake Y. Nonerythropoietic derivative of erythropoietin protects against tubulointerstitial injury in a unilateral ureteral obstruction model. Nephrol. Dial. Transplant. 2008; 23: 1521–1528.
  • 30. Menne J., Park J.K., Shushakova N., Mengel M., Meier M., Fliser D. The continuous erythropoietin receptor activator aff ects diff erent pathways of diabetic injury. J. Am. Soc. Nephrol. 2007; 18: 2046–2053.
  • 31. Moore E., Bellomo R. Erythropoietin (EPO) in acute kidney injury. Ann Intensive Care. 2011; 1: 3.
  • 32. Rathod D.B., Salahudeen A.K. Nonerythropoietic properties of erythropoietin: implication for tissue protection. J. Investig. Med. 2011; 59: 1083–1085.
  • 33. Katavetin P., Tungsanga K., Eiam-Ong S., Nangaku M. Antioxidative eff ects of erythropoietic. Kidney Int. Suppl. 2007; 107: S10–S15.
  • 34. Popov A.F., Schulz E.G., Schmitto J.D. et al. Relation between dysfunction requiring renal replacement therapy and promoter polymorphism of the erythropoietin gene in cardiac surgery. Artif Organs. 2010; 34: 961–968.
Document Type
article
Publication order reference
Identifiers
YADDA identifier
bwmeta1.element.psjd-39ae3348-03d0-42b1-9725-f544566056ef
JavaScript is turned off in your web browser. Turn it on to take full advantage of this site, then refresh the page.