Role of Pharmacogenomics in Kidney Disease and Injury

Genovese, 2010, Association of trypanolytic ApoL1 variants with kidney disease in African Americans, Science, 329, 841, 10.1126/science.1193032 Tzur, 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, 10.1007/s00439-010-0861-0 Kopp, 2008, MYH9 is a major-effect risk gene for focal segmental glomerulosclerosis, Nat Genet, 40, 1175, 10.1038/ng.226 Yeo, 2015, Shroom3 contributes to the maintenance of the glomerular filtration barrier integrity, Genome Res, 25, 57, 10.1101/gr.182881.114 Tory, 2009, Mutations of NPHP2 and NPHP3 in infantile nephronophthisis, Kidney Int, 75, 839, 10.1038/ki.2008.662 Zhang, 2005, Metabolism and transport of oxazaphosphorines and the clinical implications, Drug Metab Rev, 37, 611, 10.1080/03602530500364023 Whirl-Carrillo M, McDonagh EM, Hebert JM, et al. Cyclophosphamide Pathway, Pharmacokinetics. Available at: https://www.pharmgkb.org/pathway/PA2034. 2015. Accessed November 9, 2015. Helsby, 2010, The combined impact of CYP2C19 and CYP2B6 pharmacogenetics on cyclophosphamide bioactivation, Br J Clin Pharmacol, 70, 844, 10.1111/j.1365-2125.2010.03789.x Ngamjanyaporn, 2011, Pharmacogenetics of cyclophosphamide and CYP2C19 polymorphism in Thai systemic lupus erythematosus, Rheumatol Int, 31, 1215, 10.1007/s00296-010-1420-7 Takada, 2004, Cytochrome P450 pharmacogenetics as a predictor of toxicity and clinical response to pulse cyclophosphamide in lupus nephritis, Arthritis Rheum, 50, 2202, 10.1002/art.20338 Winoto, 2011, Cytochrome P450 polymorphisms and the response of lupus nephritis to cyclophosphamide therapy, Clin Nephrol, 75, 451, 10.5414/CN106886 Joy, 2012, Cyclophosphamide and 4-hydroxycyclophosphamide pharmacokinetics in patients with glomerulonephritis secondary to lupus and small vessel vasculitis, Br J Clin Pharmacol, 74, 445, 10.1111/j.1365-2125.2012.04223.x Zhong, 2006, Relationship of glutathione S-transferase genotypes with side-effects of pulsed cyclophosphamide therapy in patients with systemic lupus erythematosus, Br J Clin Pharmacol, 62, 457 Beeghly, 2006, Glutathione S-transferase polymorphisms and ovarian cancer treatment and survival, Gynecol Oncol, 100, 330, 10.1016/j.ygyno.2005.08.035 Yang, 2005, Genetic polymorphisms in glutathione-S-transferase genes (GSTM1, GSTT1, GSTP1) and survival after chemotherapy for invasive breast carcinoma, Cancer, 103, 52, 10.1002/cncr.20729 Goekkurt, 2006, Polymorphisms of glutathione S-transferases (GST) and thymidylate synthase (TS)—novel predictors for response and survival in gastric cancer patients, Br J Cancer, 94, 281 Zaza G, Cheok M, Krynetskaia N, et al. Pathway. Thiopurine Pathway, Pharmacokinetics/Pharmacodynamics. www.pharmgkb.org/pathway/PA2040. Accessed February 24, 2016. Lennard, 1989, Pharmacogenetics of acute azathioprine toxicity: relationship to thiopurine methyltransferase genetic polymorphism, Clin Pharmacol Ther, 46, 149, 10.1038/clpt.1989.119 Kerstens, 1995, Azathioprine-related bone marrow toxicity and low activities of purine enzymes in patients with rheumatoid arthritis, Arthritis Rheum, 38, 142, 10.1002/art.1780380122 Stolk, 1998, Reduced thiopurine methyltransferase activity and development of side effects of azathioprine treatment in patients with rheumatoid arthritis, Arthritis Rheum, 41, 1858, 10.1002/1529-0131(199810)41:10<1858::AID-ART19>3.0.CO;2-8 Boonsrirat, 2008, Azathioprine-induced fatal myelosuppression in systemic lupus erythematosus patient carrying TPMT*3C polymorphism, Lupus, 17, 132, 10.1177/0961203307085255 von Ahsen, 2008, Characterization of the inosine triphosphatase (ITPA) gene: haplotype structure, haplotype-phenotype correlation and promoter function, Ther Drug Monit, 30, 16, 10.1097/FTD.0b013e318161a21a Atanasova, 2007, Analysis of ITPA phenotype-genotype correlation in the Bulgarian population revealed a novel gene variant in exon 6, Ther Drug Monit, 29, 6, 10.1097/FTD.0b013e3180308554 Maeda, 2005, Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency in the Japanese population, Mol Genet Metab, 85, 271, 10.1016/j.ymgme.2005.03.011 Okada, 2009, Pro32Thr polymorphism of inosine triphosphate pyrophosphatase gene predicts efficacy of low-dose azathioprine for patients with systemic lupus erythematosus, Clin Pharmacol Ther, 85, 527, 10.1038/clpt.2008.261 Stocco, 2009, Genetic polymorphism of inosine triphosphate pyrophosphatase is a determinant of mercaptopurine metabolism and toxicity during treatment for acute lymphoblastic leukemia, Clin Pharmacol Ther, 85, 164, 10.1038/clpt.2008.154 Marinaki, 2004, Adverse drug reactions to azathioprine therapy are associated with polymorphism in the gene encoding inosine triphosphate pyrophosphatase (ITPase), Pharmacogenetics, 14, 181, 10.1097/00008571-200403000-00006 von Ahsen, 2005, Association of inosine triphosphatase 94C>A and thiopurine S-methyltransferase deficiency with adverse events and study drop-outs under azathioprine therapy in a prospective Crohn disease study, Clin Chem, 51, 2282, 10.1373/clinchem.2005.057158 Relling, 2013, Clinical pharmacogenetics implementation consortium guidelines for thiopurine methyltransferase genotype and thiopurine dosing: 2013 update, Clin Pharmacol Ther, 93, 324, 10.1038/clpt.2013.4 Relling, 2011, Clinical Pharmacogenetics Implementation Consortium guidelines for thiopurine methyltransferase genotype and thiopurine dosing, Clin Pharmacol Ther, 89, 387, 10.1038/clpt.2010.320 Barbarino JM, Staatz CE, Venkataramanan R, Klein TE, Altman RB. Tacrolimus/Cyclosporine Pathway, Pharmacokinetics. www.pharmgkb.org/pathway/PA165986114. Accessed February 24, 2016. Fujita, 2013, Analysis of cytochrome P450 gene polymorphism in a lupus nephritis patient in whom tacrolimus blood concentration was markedly elevated after administration of azole antifungal agents, J Clin Pharm Ther, 38, 74, 10.1111/jcpt.12004 Schmeling, 2007, Tumour necrosis factor alpha promoter polymorphisms and etanercept therapy in juvenile idiopathic arthritis, Rheumatol Int, 27, 383, 10.1007/s00296-006-0208-2 Louis, 1998, Tumour necrosis factor (TNF) gene polymorphism influences TNF-alpha production in lipopolysaccharide (LPS)-stimulated whole blood cell culture in healthy humans, Clin Exp Immunol, 113, 401, 10.1046/j.1365-2249.1998.00662.x Guis, 2007, Influence of −308 A/G polymorphism in the tumor necrosis factor alpha gene on etanercept treatment in rheumatoid arthritis, Arthritis Rheum, 57, 1426, 10.1002/art.23092 Seitz, 2007, The −308 tumour necrosis factor-alpha gene polymorphism predicts therapeutic response to TNFalpha-blockers in rheumatoid arthritis and spondyloarthritis patients, Rheumatology (Oxford), 46, 93, 10.1093/rheumatology/kel175 Maxwell, 2008, Association of the tumour necrosis factor-308 variant with differential response to anti-TNF agents in the treatment of rheumatoid arthritis, Hum Mol Genet, 17, 3532, 10.1093/hmg/ddn245 Stojanovic, 2011, Association of TNF-alpha polymorphism (−308 A/G) with high activity of rheumatoid arthritis and therapy response to Etanercept, Srp Arh Celok Lek, 139, 784, 10.2298/SARH1112784S Schotte, 2005, Interleukin 10 promoter microsatellite polymorphisms are associated with response to long term treatment with etanercept in patients with rheumatoid arthritis, Ann Rheum Dis, 64, 575, 10.1136/ard.2004.027672 Morales-Lara, 2012, Effects of polymorphisms in TRAILR1 and TNFR1A on the response to anti-TNF therapies in patients with rheumatoid and psoriatic arthritis, Joint Bone Spine, 79, 591, 10.1016/j.jbspin.2012.02.003 Pierik, 2004, Tumour necrosis factor-alpha receptor 1 and 2 polymorphisms in inflammatory bowel disease and their association with response to infliximab, Aliment Pharmacol Ther, 20, 303, 10.1111/j.1365-2036.2004.01946.x Baseggio, 2004, Allele-specific binding to the −308 single nucleotide polymorphism site in the tumour necrosis factor-alpha promoter, Eur J Immunogenet, 31, 15, 10.1111/j.1365-2370.2004.00440.x Bouma, 1996, Secretion of tumour necrosis factor alpha and lymphotoxin alpha in relation to polymorphisms in the TNF genes and HLA-DR alleles. Relevance for inflammatory bowel disease, Scand J Immunol, 43, 456, 10.1046/j.1365-3083.1996.d01-65.x Padyukov, 2003, Genetic markers for the efficacy of tumour necrosis factor blocking therapy in rheumatoid arthritis, Ann Rheum Dis, 62, 526, 10.1136/ard.62.6.526 Mugnier, 2003, Polymorphism at position −308 of the tumor necrosis factor alpha gene influences outcome of infliximab therapy in rheumatoid arthritis, Arthritis Rheum, 48, 1849, 10.1002/art.11168 Kang, 2005, The influence of a polymorphism at position −857 of the tumour necrosis factor alpha gene on clinical response to etanercept therapy in rheumatoid arthritis, Rheumatology (Oxford), 44, 547, 10.1093/rheumatology/keh550 Daien, 2012, TGF beta1 polymorphisms are candidate predictors of the clinical response to rituximab in rheumatoid arthritis, Joint Bone Spine, 79, 471, 10.1016/j.jbspin.2011.10.007 Fabris, 2012, The CC homozygosis of the −174G>C IL-6 polymorphism predicts a lower efficacy of rituximab therapy in rheumatoid arthritis, Autoimmun Rev, 11, 315, 10.1016/j.autrev.2010.06.012 Ruyssen-Witrand, 2012, Fcgamma receptor type IIIA polymorphism influences treatment outcomes in patients with rheumatoid arthritis treated with rituximab, Ann Rheum Dis, 71, 875, 10.1136/annrheumdis-2011-200337 Marquez, 2013, IL2/IL21 region polymorphism influences response to rituximab in systemic lupus erythematosus patients, Mol Biol Rep, 40, 4851, 10.1007/s11033-013-2583-6 Anolik, 2003, The relationship of FcgammaRIIIa genotype to degree of B cell depletion by rituximab in the treatment of systemic lupus erythematosus, Arthritis Rheum, 48, 455, 10.1002/art.10764 Quartuccio, 2014, The 158VV Fcgamma receptor 3A genotype is associated with response to rituximab in rheumatoid arthritis: results of an Italian multicentre study, Ann Rheum Dis, 73, 716, 10.1136/annrheumdis-2012-202435 Wahie, 2011, Clinical and pharmacogenetic influences on response to hydroxychloroquine in discoid lupus erythematosus: a retrospective cohort study, J Invest Dermatol, 131, 1981, 10.1038/jid.2011.167 Lopez, 2006, Cytokine polymorphisms influence treatment outcomes in SLE patients treated with antimalarial drugs, Arthritis Res Ther, 8, R42, 10.1186/ar1897 Lamba V, Sangkuhl K, Sanghavi K. Mycophenolic acid Pathway, Pharmacokinetics/Pharmacodynamics. www.pharmgkb.org/pathway/PA165964832?previousQuery=mycophenolate. Accessed February 24, 2016. Joy, 2010, Effects of uridine diphosphate glucuronosyltransferase 2B7 and 1A7 pharmacogenomics and patient clinical parameters on steady-state mycophenolic acid pharmacokinetics in glomerulonephritis, Eur J Clin Pharmacol, 66, 1119, 10.1007/s00228-010-0846-x Mehta, 2004, Spectrum of acute renal failure in the intensive care unit: the PICARD experience, Kidney Int, 66, 1613, 10.1111/j.1523-1755.2004.00927.x Uchino, 2005, Acute renal failure in critically ill patients: a multinational, multicenter study, JAMA, 294, 813, 10.1001/jama.294.7.813 Moffett, 2011, Acute kidney injury and increasing nephrotoxic-medication exposure in noncritically-ill children, Clin J Am Soc Nephrol, 6, 856, 10.2215/CJN.08110910 Fux, 2007, Tenofovir use is associated with a reduction in calculated glomerular filtration rates in the Swiss HIV Cohort Study, Antivir Ther, 12, 1165, 10.1177/135965350701200812 Labarga, 2009, Kidney tubular abnormalities in the absence of impaired glomerular function in HIV patients treated with tenofovir, AIDS, 23, 689, 10.1097/QAD.0b013e3283262a64 Eremina, 2008, VEGF inhibition and renal thrombotic microangiopathy, N Engl J Med, 358, 1129, 10.1056/NEJMoa0707330 Mehta, 2015, Phenotype standardization for drug-induced kidney disease, Kidney Int, 88, 226, 10.1038/ki.2015.115 Mehta, 2007, Acute Kidney Injury Network: report of an initiative to improve outcomes in acute kidney injury, Crit Care, 11, R31, 10.1186/cc5713 Hoste, 2015, Epidemiology of acute kidney injury in critically ill patients: the multinational AKI-EPI study, Intensive Care Med, 41, 1411, 10.1007/s00134-015-3934-7 McCormack, 2011, HLA-A*3101 and carbamazepine-induced hypersensitivity reactions in Europeans, N Engl J Med, 364, 1134, 10.1056/NEJMoa1013297 Pabla, 2008, Cisplatin nephrotoxicity: mechanisms and renoprotective strategies, Kidney Int, 73, 994, 10.1038/sj.ki.5002786 Gao, 2009, A meta-analysis of platinum plus gemcitabine or vinorelbine in the treatment of advanced non-small-cell lung cancer, Lung cancer, 65, 339, 10.1016/j.lungcan.2008.11.019 Akcay, 2010, Update on the diagnosis and management of acute kidney injury, Int J Nephrol Renovasc Dis, 3, 129 Iwata, 2012, Effects of genetic variants in SLC22A2 organic cation transporter 2 and SLC47A1 multidrug and toxin extrusion 1 transporter on cisplatin-induced adverse events, Clin Exp Nephrol, 16, 843, 10.1007/s10157-012-0638-y Lord, 2002, Low ERCC1 expression correlates with prolonged survival after cisplatin plus gemcitabine chemotherapy in non-small cell lung cancer, Clin Cancer Res, 8, 2286 Krivak, 2008, Relationship between ERCC1 polymorphisms, disease progression, and survival in the Gynecologic Oncology Group Phase III Trial of intraperitoneal versus intravenous cisplatin and paclitaxel for stage III epithelial ovarian cancer, J Clin Oncol, 26, 3598, 10.1200/JCO.2008.16.1323 Tzvetkov, 2011, Pharmacogenetic analyses of cisplatin-induced nephrotoxicity indicate a renoprotective effect of ERCC1 polymorphisms, Pharmacogenomics, 12, 1417, 10.2217/pgs.11.93 Khrunin, 2010, Genetic polymorphisms and the efficacy and toxicity of cisplatin-based chemotherapy in ovarian cancer patients, Pharmacogenomics J, 10, 54, 10.1038/tpj.2009.45 Goekkurt, 2009, Pharmacogenetic analyses of a phase III trial in metastatic gastroesophageal adenocarcinoma with fluorouracil and leucovorin plus either oxaliplatin or cisplatin: a study of the arbeitsgemeinschaft internistische onkologie, J Clin Oncol, 27, 2863, 10.1200/JCO.2008.19.1718 Filipski, 2008, Interaction of cisplatin with the human organic cation transporter 2, Clin Cancer Res, 14, 3875, 10.1158/1078-0432.CCR-07-4793 Song, 2008, Genetic variants of the organic cation transporter 2 influence the disposition of metformin, Clin Pharmacol Ther, 84, 559, 10.1038/clpt.2008.61 Filipski, 2009, Contribution of organic cation transporter 2 (OCT2) to cisplatin-induced nephrotoxicity, Clin Pharmacol Ther, 86, 396, 10.1038/clpt.2009.139 Thervet, 2010, Optimization of initial tacrolimus dose using pharmacogenetic testing, Clin Pharmacol Ther, 87, 721 Pallet, 2015, Kidney transplant recipients carrying the CYP3A4*22 allelic variant have reduced tacrolimus clearance and often reach supratherapeutic tacrolimus concentrations, Am J Transplant, 15, 800, 10.1111/ajt.13059 Birdwell, 2015, Clinical pharmacogenetics implementation consortium (CPIC) guidelines for CYP3A5 genotype and tacrolimus dosing, Clin Pharmacol Ther, 98, 19, 10.1002/cpt.113 Woodahl, 2004, The role of MDR1 genetic polymorphisms in interindividual variability in P-glycoprotein expression and function, Curr Drug Metab, 5, 11, 10.2174/1389200043489108 Hesselink, 2014, The role of pharmacogenetics in the disposition of and response to tacrolimus in solid organ transplantation, Clin Pharmacokinet, 53, 123, 10.1007/s40262-013-0120-3 Bandur, 2008, Haplotypic structure of ABCB1/MDR1 gene modifies the risk of the acute allograft rejection in renal transplant recipients, Transplantation, 86, 1206, 10.1097/TP.0b013e318187c4d1 Kuypers, 2010, Tacrolimus dose requirements and CYP3A5 genotype and the development of calcineurin inhibitor-associated nephrotoxicity in renal allograft recipients, Ther Drug Monit, 32, 394, 10.1097/FTD.0b013e3181e06818 Joy, 2007, Cytochrome P450 3A5 expression in the kidneys of patients with calcineurin inhibitor nephrotoxicity, Nephrol Dial Transplant, 22, 1963, 10.1093/ndt/gfm133 Joy, 2005, Calcineurin inhibitor-induced nephrotoxicity and renal expression of P-glycoprotein, Pharmacotherapy, 25, 779, 10.1592/phco.2005.25.6.779 Hauser, 2005, ABCB1 genotype of the donor but not of the recipient is a major risk factor for cyclosporine-related nephrotoxicity after renal transplantation, J Am Soc Nephrol, 16, 1501, 10.1681/ASN.2004100882 Naesens, 2009, Donor age and renal P-glycoprotein expression associate with chronic histological damage in renal allografts, J Am Soc Nephrol, 20, 2468, 10.1681/ASN.2009020192 Moore, 2012, Donor ABCB1 variant associates with increased risk for kidney allograft failure, J Am Soc Nephrol, 23, 1891, 10.1681/ASN.2012030260 Izzedine, 2006, Association between ABCC2 gene haplotypes and tenofovir-induced proximal tubulopathy, J Infect Dis, 194, 1481, 10.1086/508546 Miller, 2001, Nucleoside phosphonate interactions with multiple organic anion transporters in renal proximal tubule, J Pharmacol Exp Ther, 299, 567 Rodriguez-Novoa, 2009, Predictors of kidney tubular dysfunction in HIV-infected patients treated with tenofovir: a pharmacogenetic study, Clin Infect Dis, 48, e108, 10.1086/598507 Pushpakom, 2011, Genetic variants of ABCC10, a novel tenofovir transporter, are associated with kidney tubular dysfunction, J Infect Dis, 204, 145, 10.1093/infdis/jir215 Dahlin, 2015, A pharmacogenetic candidate gene study of tenofovir-associated Fanconi syndrome, Pharmacogenet Genomics, 25, 82, 10.1097/FPC.0000000000000110 Wanga, 2015, Genomewide association study of tenofovir pharmacokinetics and creatinine clearance in AIDS Clinical Trials Group protocol A5202, Pharmacogenet Genomics, 25, 450, 10.1097/FPC.0000000000000156 Lee, 2014, The emerging era of pharmacogenomics: current successes, future potential, and challenges, Clin Genet, 86, 21, 10.1111/cge.12392