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

Pediatric Nephrology

Volumn 29, Issue 9, 2014, Pages 1485-1492

  Palanisamy, Amudha ^a   Reeves Daniel, Amber M ^a   Freedman, Barry I ^a  

^a WAKE FOREST SCHOOL OF MEDICINE   (United States)

Author keywords

ABCB1; APOL1; CAV1; Genetics; Kidney disease; Transplantation

Indexed keywords

ABCB1 GENE; APOL1 GENE; CAV1 GENE; ENVIRONMENTAL FACTOR; GENE; GENE EXPRESSION; GENETIC VARIABILITY; GENOTYPE; GRAFT FAILURE; GRAFT RECIPIENT; GRAFT SURVIVAL; HUMAN; KIDNEY DONOR; KIDNEY TRANSPLANTATION; LIFE EXPECTANCY; NONHUMAN; PRIORITY JOURNAL; REVIEW; TREATMENT OUTCOME; DONOR; GENETICS; MORTALITY;

ABCB1 PROTEIN, HUMAN; APOL1 PROTEIN, HUMAN; APOLIPOPROTEIN; CAV1 PROTEIN, HUMAN; CAVEOLIN 1; HIGH DENSITY LIPOPROTEIN; MULTIDRUG RESISTANCE PROTEIN;

APOLIPOPROTEINS; CAVEOLIN 1; GENOTYPE; GRAFT SURVIVAL; HUMANS; KIDNEY TRANSPLANTATION; LIPOPROTEINS, HDL; P-GLYCOPROTEINS; TISSUE DONORS;

EID: 84897867608     PISSN: 0931041X     EISSN: 1432198X     Source Type: Journal    
DOI: 10.1007/s00467-013-2531-7     Document Type: Review

References (60)

1. 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
2. Knauf F, Aronson PS (2009) ESRD as a window into America's cost crisis in health care. J Am Soc Nephrol 20:2093-2097
3. 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
4. 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 -725
5. 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 variantswith kidney disease inAfricanAmericans. Science 329:841-845
6. 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 128:345-350
7. 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
8. O'Seaghdha CM, Parekh RS, Hwang SJ, Li M, Kottgen A, Coresh J, Yang Q, Fox CS, KaoWH(2011) The MYH9/APOL1 region and chronic kidney disease in European-Americans. Hum Mol Genet 20:2450-2456
9. 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 27:1505-1511
10. Kopp JB, NelsonGW, 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- 120
12. Genovese G, Friedman DJ, Pollak MR (2013) APOL1 variants and kidney disease in people of recent African ancestry. Nat Rev Nephrol 9:240-244
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 45:485-494
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 80:466-470 (Pubitemid 41209413)
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 2:68-75 (Pubitemid 36312971)
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 41:4125-4130
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 272:25576-25582 (Pubitemid 27438869)
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 22:2119-2128
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 59:210-221
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
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 93:3418-3431 (Pubitemid 29220909)
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 79:539-546 (Pubitemid 34274295)
26. Skorecki KL,WasserWG (2013) Hypertension-misattributed kidney disease in African Americans. Kidney Int 83:6-9
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 363:724-732
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 11:1650-1655
29. Di Guglielmo GM, Le RC, Goodfellow AF, Wrana JL (2003) Distinct endocytic pathways regulate TGF-beta receptor signalling and turnover. Nat Cell Biol 5:410-421 (Pubitemid 36592263)
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 203:2895-2906 (Pubitemid 46026167)
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-F364
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 9:527-535
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 303:1282-1287
34. Sharma P, Sabharanjak S, Mayor S (2002) Endocytosis of lipid rafts: an identity crisis. Semin Cell Dev Biol 13:205-214 (Pubitemid 35304524)
35. Anderson RG, Kamen BA, Rothberg KG, Lacey SW (1992) Potocytosis: sequestration and transport of small molecules by caveolae. Science 255:410-411
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 - 483
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 277:3371-3379 (Pubitemid 34953205)
38. Smart EJ, Graf GA, McNiven MA, Sessa WC, Engelman JA, Scherer PE, Okamoto T, LisantiMP (1999) Caveolins, liquid-ordered domains, and signal transduction. Mol Cell Biol 19:7289-7304 (Pubitemid 29493393)
39. Simons K, Toomre D (2000) Lipid rafts and signal transduction. Nat Rev Mol Cell Biol 1:31-39
40. Djamali A, Samaniego M (2009) Fibrogenesis in kidney transplantation: potential targets for prevention and therapy. Transplantation 88:1149-1156
41. Bottinger EP (2007) TGF-beta in renal injury and disease. Semin Nephrol 27:309 -320
42. Zavadil J, Bottinger EP (2005) TGF-beta and epithelial-tomesenchymal transitions. Oncogene 24:5764-5774
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 6:1367-1376 (Pubitemid 44030319)
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 81:8552-8562 (Pubitemid 47242828)
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 342:605-612 (Pubitemid 30118412)
46. Merion RM, White DJ, Thiru S, Evans DB, Calne RY (1984) Cyclosporine: five years' experience in cadaveric renal transplantation. N Engl J Med 310:148-154 (Pubitemid 14224108)
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 63:977-983 (Pubitemid 27173021)
48. Naesens M, Kuypers DR, Sarwal M (2009) Calcineurin inhibitor nephrotoxicity. Clin J Am Soc Nephrol 4:481-508
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 62:900-905 (Pubitemid 26360348)
50. Kershner RP, Fitzsimmons WE (1996) Relationship of FK506 whole blood concentrations and efficacy and toxicity after liver and kidney transplantation. Transplantation 62:920-926 (Pubitemid 26360352)
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 2:950-954
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 1:686-689 (Pubitemid 11154198)
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 88:95-100
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 23:1891-1899
55. Saeki T, Ueda K, Tanigawara Y, Hori R, Komano T (1993) Human P-glycoprotein transports cyclosporin A and FK506. J Biol Chem 268:6077-6080 (Pubitemid 23099291)
56. Marzolini C, Paus E, Buclin T, Kim RB (2004) Polymorphisms in human MDR1 (P-glycoprotein): recent advances and clinical relevance. Clin Pharmacol Ther 75:13-33 (Pubitemid 38130115)
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 84:7735-7738
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 26:3046-3050
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- 645
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 33:178-184