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Pediatric Nephrology

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01.09.2014 | Review

The impact of APOL1, CAV1, and ABCB1 gene variants on outcomes in kidney transplantation: donor and recipient effects

verfasst von: Amudha Palanisamy, Amber M. Reeves-Daniel, Barry I. Freedman

Erschienen in: Pediatric Nephrology | Ausgabe 9/2014

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Abstract

Dramatic improvements have been seen in short-term kidney allograft survival over recent decades with introduction of more potent immunosuppressant medications and regimens. Unfortunately, improvements in long-term graft survival have lagged behind. The genomics revolution is providing new insights regarding the potential impact of kidney donor genotypes on long-term graft survival. Variation in the donor apolipoprotein L1 (APOL1), caveolin 1 (CAV1), and multi-drug resistance 1 encoding P-glycoprotein genes (ABCB1) are all associated with graft survival after kidney transplantation. Although the precise mechanisms whereby these donor gene variants confer risk for graft loss have yet to be determined, these findings provide novel opportunities for modifying interactive environmental factors and optimizing kidney allocation with the ultimate goal of improving long-term graft survival rates.

U.S. Renal Data System (2012) USRDS 2012 Annual Data Report, Vol 1: Atlas of Chronic Kidney Disease and End-Stage Renal Disease in the United States, National Institutes of Health, National Institute of Diabetes and Digestive and Kidney Diseases. www.usrds.org

Knauf F, Aronson PS (2009) ESRD as a window into America’s cost crisis in health care. J Am Soc Nephrol 20:2093–2097PubMedCrossRef

Department of Health and Human Services HRaSAHSBDoT (2011) Organ Procurement and Transplantation Network (OPTN) and Scientific Registry of Transplant Recipients (SRTR). OPTN/SRTR 2010 Annual Data Report, Rockville, MD, www.srtr.org

Cohen DM, Mittalhenkle A, Scott DL, Young CJ, Norman DJ (2011) African American living-kidney donors should be screened for APOL1 risk alleles. Transplantation 92:722–725PubMedCrossRef

Genovese G, Friedman DJ, Ross MD, Lecordier L, Uzureau P, Freedman BI, Bowden DW, Langefeld CD, Oleksyk TK, Uscinski Knob AL, Bernhardy AJ, Hicks PJ, Nelson GW, Vanhollebeke B, Winkler CA, Kopp JB, Pays E, Pollak MR (2010) Association of trypanolytic ApoL1 variants with kidney disease in African Americans. Science 329:841–845PubMedCentralPubMedCrossRef

Tzur S, Rosset S, Shemer R, Yudkovsky G, Selig S, Tarekegn A, Bekele E, Bradman N, Wasser WG, Behar DM, Skorecki K (2010) Missense mutations in the APOL1 gene are highly associated with end stage kidney disease risk previously attributed to the MYH9 gene. Hum Genet 128:345–350PubMedCentralPubMedCrossRef

Freedman BI, Kopp JB, Langefeld CD, Genovese G, Friedman DJ, Nelson GW, Winkler CA, Bowden DW, Pollak MR (2010) The Apolipoprotein L1 (APOL1) gene and nondiabetic nephropathy in African Americans. J Am Soc Nephrol 21:1422–1426

O’Seaghdha CM, Parekh RS, Hwang SJ, Li M, Kottgen A, Coresh J, Yang Q, Fox CS, Kao WH (2011) The MYH9/APOL1 region and chronic kidney disease in European-Americans. Hum Mol Genet 20:2450–2456PubMedCentralPubMedCrossRef

Cooke JN, Bostrom MA, Hicks PJ, Ng MC, Hellwege JN, Comeau ME, Divers J, Langefeld CD, Freedman BI, Bowden DW (2012) Polymorphisms in MYH9 are associated with diabetic nephropathy in European Americans. Nephrol Dial Transplant 27:1505–1511PubMedCentralPubMedCrossRef

10.

Kopp JB, Nelson GW, Sampath K, Johnson RC, Genovese G, An P, Friedman D, Briggs W, Dart R, Korbet S, Mokrzycki MH, Kimmel PL, Limou S, Ahuja TS, Berns JS, Fryc J, Simon EE, Smith MC, Trachtman H, Michel DM, Schelling JR, Vlahov D, Pollak M, Winkler CA (2011) APOL1 genetic variants in focal segmental glomerulosclerosis and HIV-associated nephropathy. J Am Soc Nephrol 22:2129–2137

11.

Lipkowitz MS, Freedman BI, Langefeld CD, Comeau ME, Bowden DW, Kao WHL, Astor BC, Bottinger EP, Iyengar SK, Klotman PE, Freedman RG, Zhang W, Parekh RS, Choi MJ, Nelson GW, Winkler CA, Kopp JB (2013) Apolipoprotein L1 gene variants associate with hypertension-attributed nephropathy and the rate of kidney function decline in African Americans. Kidney Int 83:114–120PubMedCentralPubMedCrossRef

12.

Genovese G, Friedman DJ, Pollak MR (2013) APOL1 variants and kidney disease in people of recent African ancestry. Nat Rev Nephrol 9:240–244PubMedCrossRef

13.

Behar DM, Kedem E, Rosset S, Haileselassie Y, Tzur S, Kra-Oz Z, Wasser WG, Shenhar Y, Shahar E, Hassoun G, Maor C, Wolday D, Pollack S, Skorecki K (2011) Absence of APOL1 risk variants protects against HIV-associated nephropathy in the Ethiopian population. Am J Nephrol 34:452–459

14.

Tayo BO, Kramer H, Salako BL, Gottesman O, McKenzie CA, Ogunniyi A, Bottinger EP, Cooper RS (2013) Genetic variation in APOL1 and MYH9 genes is associated with chronic kidney disease among Nigerians. Int Urol Nephrol 45:485–494PubMedCentralPubMedCrossRef

15.

Hwang AH, Cho YW, Cicciarelli J, Mentser M, Iwaki Y, Hardy BE (2005) Risk factors for short- and long-term survival of primary cadaveric renal allografts in pediatric recipients: a UNOS analysis. Transplantation 80:466–470PubMedCrossRef

16.

Swanson SJ, Hypolite IO, Agodoa LY, Batty DS Jr, Hshieh PB, Cruess D, Kirk AD, Peters TG, Abbott KC (2002) Effect of donor factors on early graft survival in adult cadaveric renal transplantation. Am J Transplant 2:68–75PubMedCrossRef

17.

Callender CO, Cherikh WS, Traverso P, Hernandez A, Oyetunji T, Chang D (2009) Effect of donor ethnicity on kidney survival in different recipient pairs: an analysis of the OPTN/UNOS database. Transplant Proc 41:4125–4130PubMedCentralPubMedCrossRef

18.

Reeves-Daniel AM, Depalma JA, Bleyer AJ, Rocco MV, Murea M, Adams PL, Langefeld CD, Bowden DW, Hicks PJ, Stratta RJ, Lin JJ, Kiger DF, Gautreaux MD, Divers J, Freedman BI (2011) The APOL1 gene and allograft survival after kidney transplantation. Am J Transplant 11:1025–1030

19.

Lee BT, Kumar V, Williams TA, Abdi R, Bernhardy A, Dyer C, Conte S, Genovese G, Ross MD, Friedman DJ, Gaston R, Milford E, Pollak MR, Chandraker A (2012) The APOL1 genotype of African American kidney transplant recipients does not impact 5-year allograft survival. Am J Transplant 12:1924–1928

20.

Duchateau PN, Pullinger CR, Orellana RE, Kunitake ST, Naya-Vigne J, O’Connor PM, Malloy MJ, Kane JP (1997) Apolipoprotein L, a new human high density lipoprotein apolipoprotein expressed by the pancreas. Identification, cloning, characterization, and plasma distribution of apolipoprotein L. J Biol Chem 272:25576–25582PubMedCrossRef

21.

Madhavan SM, O’Toole JF, Konieczkowski M, Ganesan S, Bruggeman LA, Sedor JR (2011) APOL1 localization in normal kidney and nondiabetic kidney disease. J Am Soc Nephrol 22:2119–2128PubMedCentralPubMedCrossRef

22.

Bostrom MA, Kao WH, Li M, Abboud HE, Adler SG, Iyengar SK, Kimmel PL, Hanson RL, Nicholas SB, Rasooly RS, Sedor JR, Coresh J, Kohn OF, Leehey DJ, Thornley-Brown D, Bottinger EP, Lipkowitz MS, Meoni LA, Klag MJ, Lu L, Hicks PJ, Langefeld CD, Parekh RS, Bowden DW, Freedman BI (2012) Genetic association and gene-gene interaction analyses in African American dialysis patients with nondiabetic nephropathy. Am J Kidney Dis 59:210–221PubMedCentralPubMedCrossRef

23.

Divers J, Nunez M, High KP, Murea M, Rocco MV, Ma L, Bowden DW, Hicks PJ, Spainhour M, Ornelles DA, Kleiboeker S, Duncan K, Langefeld C, Turner J, Freedman BI (2013) JC polyoma virus interacts with APOL1 in African Americans with non-diabetic nephropathy. Kidney Int. doi:10.1038/ki.2013.173 PubMedCentralPubMed

24.

Horrevoets AJ, Fontijn RD, van Zonneveld AJ, de Vries CJ, ten Cate JW, Pannekoek H (1999) Vascular endothelial genes that are responsive to tumor necrosis factor-alpha in vitro are expressed in atherosclerotic lesions, including inhibitor of apoptosis protein-1, stannin, and two novel genes. Blood 93:3418–3431PubMed

25.

Monajemi H, Fontijin RD, Pannekoek H, Horrevoets AJ (2002) The apolipoprotein L gene cluster has emerged recently in evolution and is expressed in human vascular tissue. Genomics 79:539–546PubMedCrossRef

26.

Skorecki KL, Wasser WG (2013) Hypertension-misattributed kidney disease in African Americans. Kidney Int 83:6–9PubMedCrossRef

27.

Lentine KL, Schnitzler MA, Xiao H, Saab G, Salvalaggio PR, Axelrod D, Davis CL, Abbott KC, Brennan DC (2010) Racial variation in medical outcomes among living kidney donors. N Engl J Med 363:724–732PubMedCentralPubMedCrossRef

28.

Cherikh WS, Young CJ, Kramer BF, Taranto SE, Randall HB, Fan PY (2011) Ethnic and Gender Related Differences in the Risk of End-Stage Renal Disease After Living Kidney Donation. Am J Transplant 11:1650–1655PubMedCrossRef

29.

Di Guglielmo GM, Le RC, Goodfellow AF, Wrana JL (2003) Distinct endocytic pathways regulate TGF-beta receptor signalling and turnover. Nat Cell Biol 5:410–421PubMedCrossRef

30.

Wang XM, Zhang Y, Kim HP, Zhou Z, Feghali-Bostwick CA, Liu F, Ifedigbo E, Xu X, Oury TD, Kaminski N, Choi AM (2006) Caveolin-1: a critical regulator of lung fibrosis in idiopathic pulmonary fibrosis. J Exp Med 203:2895–2906PubMedCentralPubMedCrossRef

31.

Park HC, Yasuda K, Ratliff B, Stoessel A, Sharkovska Y, Yamamoto I, Jasmin JF, Bachmann S, Lisanti MP, Chander P, Goligorsky MS (2010) Postobstructive regeneration of kidney is derailed when surge in renal stem cells during course of unilateral ureteral obstruction is halted. Am J Physiol Renal Physiol 298:F357–F364PubMedCentralPubMedCrossRef

32.

El-Zoghby ZM, Stegall MD, Lager DJ, Kremers WK, Amer H, Gloor JM, Cosio FG (2009) Identifying specific causes of kidney allograft loss. Am J Transplant 9:527–535PubMedCrossRef

33.

Moore J, McKnight AJ, Simmonds MJ, Courtney AE, Hanvesakul R, Brand OJ, Briggs D, Ball S, Cockwell P, Patterson CC, Maxwell AP, Gough SC, Borrows R (2010) Association of caveolin-1 gene polymorphism with kidney transplant fibrosis and allograft failure. JAMA 303:1282–1287PubMedCrossRef

34.

Sharma P, Sabharanjak S, Mayor S (2002) Endocytosis of lipid rafts: an identity crisis. Semin Cell Dev Biol 13:205–214PubMedCrossRef

35.

Anderson RG, Kamen BA, Rothberg KG, Lacey SW (1992) Potocytosis: sequestration and transport of small molecules by caveolae. Science 255:410–411PubMedCrossRef

36.

Pelkmans L, Kartenbeck J, Helenius A (2001) Caveolar endocytosis of simian virus 40 reveals a new two-step vesicular-transport pathway to the ER. Nat Cell Biol 3:473–483PubMedCrossRef

37.

Le PU, Guay G, Altschuler Y, Nabi IR (2002) Caveolin-1 is a negative regulator of caveolae-mediated endocytosis to the endoplasmic reticulum. J Biol Chem 277:3371–3379PubMedCrossRef

38.

Smart EJ, Graf GA, McNiven MA, Sessa WC, Engelman JA, Scherer PE, Okamoto T, Lisanti MP (1999) Caveolins, liquid-ordered domains, and signal transduction. Mol Cell Biol 19:7289–7304PubMedCentralPubMed

39.

Simons K, Toomre D (2000) Lipid rafts and signal transduction. Nat Rev Mol Cell Biol 1:31–39PubMedCrossRef

40.

Djamali A, Samaniego M (2009) Fibrogenesis in kidney transplantation: potential targets for prevention and therapy. Transplantation 88:1149–1156PubMedCentralPubMedCrossRef

41.

Bottinger EP (2007) TGF-beta in renal injury and disease. Semin Nephrol 27:309–320PubMedCrossRef

42.

Zavadil J, Bottinger EP (2005) TGF-beta and epithelial-to-mesenchymal transitions. Oncogene 24:5764–5774PubMedCrossRef

43.

Tyler JR, Robertson H, Booth TA, Burt AD, Kirby JA (2006) Chronic allograft nephropathy: intraepithelial signals generated by transforming growth factor-beta and bone morphogenetic protein-7. Am J Transplant 6:1367–1376PubMedCrossRef

44.

Moriyama T, Marquez JP, Wakatsuki T, Sorokin A (2007) Caveolar endocytosis is critical for BK virus infection of human renal proximal tubular epithelial cells. J Virol 81:8552–8562PubMedCentralPubMedCrossRef

45.

Hariharan S, Johnson CP, Bresnahan BA, Taranto SE, McIntosh MJ, Stablein D (2000) Improved graft survival after renal transplantation in the United States, 1988 to 1996. N Engl J Med 342:605–612PubMedCrossRef

46.

Merion RM, White DJ, Thiru S, Evans DB, Calne RY (1984) Cyclosporine: five years’ experience in cadaveric renal transplantation. N Engl J Med 310:148–154PubMedCrossRef

47.

Pirsch JD, Miller J, Deierhoi MH, Vincenti F, Filo RS (1997) A comparison of tacrolimus (FK506) and cyclosporine for immunosuppression after cadaveric renal transplantation. FK506 Kidney Transplant Study Group. Transplantation 63:977–983PubMedCrossRef

48.

Naesens M, Kuypers DR, Sarwal M (2009) Calcineurin inhibitor nephrotoxicity. Clin J Am Soc Nephrol 4:481–508PubMed

49.

Laskow DA, Vincenti F, Neylan JF, Mendez R, Matas AJ (1996) An open-label, concentration-ranging trial of FK506 in primary kidney transplantation: a report of the United States Multicenter FK506 Kidney Transplant Group. Transplantation 62:900–905PubMedCrossRef

50.

Kershner RP, Fitzsimmons WE (1996) Relationship of FK506 whole blood concentrations and efficacy and toxicity after liver and kidney transplantation. Transplantation 62:920–926PubMedCrossRef

51.

Klintmalm G, Bohman SO, Sundelin B, Wilczek H (1984) Interstitial fibrosis in renal allografts after 12 to 46 months of cyclosporin treatment: beneficial effect of low doses in early post-transplantation period. Lancet 2:950–954PubMedCrossRef

52.

Keown PA, Stiller CR, Ulan RA, Sinclair NR, Wall WJ, Carruthers G, Howson W (1981) Immunological and pharmacological monitoring in the clinical use of cyclosporin A. Lancet 1:686–689PubMedCrossRef

53.

Woillard JB, Rerolle JP, Picard N, Rousseau A, Guillaudeau A, Munteanu E, Essig M, Drouet M, Le MY, Marquet P (2010) Donor P-gp polymorphisms strongly influence renal function and graft loss in a cohort of renal transplant recipients on cyclosporine therapy in a long-term follow-up. Clin Pharmacol Ther 88:95–100PubMedCentralPubMedCrossRef

54.

Moore J, McKnight AJ, Dohler B, Simmonds MJ, Courtney AE, Brand OJ, Briggs D, Ball S, Cockwell P, Patterson CC, Maxwell AP, Gough SC, Opelz G, Borrows R (2012) Donor ABCB1 variant associates with increased risk for kidney allograft failure. J Am Soc Nephrol 23:1891–1899PubMedCentralPubMedCrossRef

55.

Saeki T, Ueda K, Tanigawara Y, Hori R, Komano T (1993) Human P-glycoprotein transports cyclosporin A and FK506. J Biol Chem 268:6077–6080PubMed

56.

Marzolini C, Paus E, Buclin T, Kim RB (2004) Polymorphisms in human MDR1 (P-glycoprotein): recent advances and clinical relevance. Clin Pharmacol Ther 75:13–33PubMedCrossRef

57.

Thiebaut F, Tsuruo T, Hamada H, Gottesman MM, Pastan I, Willingham MC (1987) Cellular localization of the multidrug-resistance gene product P-glycoprotein in normal human tissues. Proc Natl Acad Sci USA 84:7735–7738PubMedCentralPubMedCrossRef

58.

Glowacki F, Lionet A, Buob D, Labalette M, Allorge D, Provot F, Hazzan M, Noel C, Broly F, Cauffiez C (2011) CYP3A5 and ABCB1 polymorphisms in donor and recipient: impact on Tacrolimus dose requirements and clinical outcome after renal transplantation. Nephrol Dial Transplant 26:3046–3050PubMedCrossRef

59.

Terrazzino S, Quaglia M, Stratta P, Canonico PL, Genazzani AA (2012) The effect of CYP3A5 6986A > G and ABCB1 3435C > T on tacrolimus dose-adjusted trough levels and acute rejection rates in renal transplant patients: a systematic review and meta-analysis. Pharmacogenet Genomics 22:642–645PubMedCrossRef

60.

Bouamar R, Hesselink DA, van Schaik RH, Weimar W, Macphee IA, de Fijter JW, van Gelder T (2011) Polymorphisms in CYP3A5, CYP3A4, and ABCB1 are not associated with cyclosporine pharmacokinetics nor with cyclosporine clinical end points after renal transplantation. Ther Drug Monit 33:178–184PubMed

Titel: The impact of APOL1, CAV1, and ABCB1 gene variants on outcomes in kidney transplantation: donor and recipient effects
verfasst von: Amudha Palanisamy
Amber M. Reeves-Daniel
Barry I. Freedman
Publikationsdatum: 01.09.2014
Verlag: Springer Berlin Heidelberg
Erschienen in: Pediatric Nephrology / Ausgabe 9/2014
Print ISSN: 0931-041X
Elektronische ISSN: 1432-198X
DOI: https://doi.org/10.1007/s00467-013-2531-7

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The impact of APOL1, CAV1, and ABCB1 gene variants on outcomes in kidney transplantation: donor and recipient effects

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