Human leukocyte antigen (HLA) pharmacogenomic tests: Potential and pitfalls

Current Drug Metabolism

Volumn 15, Issue 2, 2014, Pages 196-201

  Daly, Ann K ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

Abacavir; B*15:02; B*57:01; Carbamazepine; Drug induced liver injury; Human leukocyte antigen; Hypersensitivity

Indexed keywords

ABACAVIR; ALLOPURINOL; AMOXICILLIN PLUS CLAVULANIC ACID; ANTICONVULSIVE AGENT; CARBAMAZEPINE; FLUCLOXACILLIN; HLA ANTIGEN; HLA B ANTIGEN; LAPATINIB; LUMIRACOXIB; NEVIRAPINE; OLIGONUCLEOTIDE; TICLOPIDINE; XIMELAGATRAN; HLA-B57 ANTIGEN; PRIMER DNA;

ALLELE; ASIA; DNA SEQUENCE; DRUG HYPERSENSITIVITY; GENETIC RISK; GENOTYPE; HLA TYPING; HUMAN; LIVER INJURY; LIVER TOXICITY; PHARMACOGENOMICS; PHENOTYPE; POLYMERASE CHAIN REACTION; PREDICTIVE VALUE; RASH; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM; STEVENS JOHNSON SYNDROME; TOXIC EPIDERMAL NECROLYSIS; ADVERSE DRUG REACTION; GENETIC SCREENING; GENETICS; PHARMACOGENETICS; PROCEDURES;

DNA PRIMERS; DRUG-RELATED SIDE EFFECTS AND ADVERSE REACTIONS; GENETIC TESTING; GENOTYPE; HLA ANTIGENS; HLA-B ANTIGENS; HUMANS; PHARMACOGENETICS; POLYMORPHISM, SINGLE NUCLEOTIDE; PREDICTIVE VALUE OF TESTS; SEQUENCE ANALYSIS, DNA;

EID: 84900873736     PISSN: 13892002     EISSN: 18755453     Source Type: Journal    
DOI: 10.2174/138920021502140327180733     Document Type: Review

References (52)

1. Daly, A. K. Pharmacogenomics of adverse drug reactions. Genome Med., 2013, 5(1), 5.
2. Mallal, S.; Nolan, D.; Witt, C.; Masel, G.; Martin, A. M.; Moore, C.; Sayer, D.; Castley, A.; Mamotte, C.; Maxwell, D.; James, I.; Christiansen, F. T. Association between presence of HLA-Bß5701, HLA-DR7, and HLA-DQ3 and hypersensitivity to HIV-1 reverse transcriptase inhibitor abacavir. Lancet, 2002, 359, 727-732.
3. Hetherington, S.; Hughes, A. R.; Mosteller, M.; Shortino, D.; Baker, K. L.; Spreen, W.; Lai, E.; Davies, K.; Handley, A.; Dow, D. J.; Fling, M. E.; Stocum, M.; Bowman, C.; Thurmond, L. M.; Roses, A. D. Genetic variations in HLA-B region and hypersensitivity reactions to abacavir. Lancet, 2002, 359(9312), 1121-2.
4. Hughes, D. A.; Vilar, F. J.; Ward, C. C.; Alfirevic, A.; Park, B. K.; Pirmohamed, M. Cost-effectiveness analysis of HLA Bß5701 genotyping in preventing abacavir hypersensitivity. Pharmacogenetics, 2004, 14(6), 335-42.
5. Mallal, S.; Phillips, E.; Carosi, G.; Molina, J. M.; Workman, C.; Tomazic, J.; Jagel-Guedes, E.; Rugina, S.; Kozyrev, O.; Cid, J. F.; Hay, P.; Nolan, D.; Hughes, S.; Hughes, A.; Ryan, S.; Fitch, N.; Thorborn, D.; Benbow, A. HLA-Bß5701 screening for hypersensitivity to abacavir. N. Engl. J. Med., 2008, 358(6), 568-79.
6. Illing, P. T.; Vivian, J. P.; Dudek, N. L.; Kostenko, L.; Chen, Z.; Bharadwaj, M.; Miles, J. J.; Kjer-Nielsen, L.; Gras, S.; Williamson, N. A.; Burrows, S. R.; Purcell, A. W.; Rossjohn, J.; McCluskey, J. Immune self-reactivity triggered by drug-modified HLA-peptide repertoire. Nature, 2012, 486 (7404), 554-8.
7. Svensson, C. K.; Cowen, E. W.; Gaspari, A. A. Cutaneous drug reactions. Pharmacol. Rev., 2001, 53 (3), 357-79.
8. Roujeau, J. C.; Bracq, C.; Huyn, N. T.; Chaussalet, E.; Raffin, C.; Duedari, N. HLA phenotypes and bullous cutaneous reactions to drugs. Tissue Antigens, 1986, 28(4), 251-4.
9. Chung, W. H.; Hung, S. I.; Hong, H. S.; Hsih, M. S.; Yang, L. C.; Ho, H. C.; Wu, J. Y.; Chen, Y. T.: Medical genetics: a marker for Stevens-Johnson syndrome. Nature, 2004, 428(6982), 486.
10. McCormack, M.; Alfirevic, A.; Bourgeois, S.; Farrell, J. J.; Kasperaviciute, D.; Carrington, M.; Sills, G. J.; Marson, T.; Jia, X.; de Bakker, P. I.; Chinthapalli, K.; Molokhia, M.; Johnson, M. R.; O'Connor, G. D.; Chaila, E.; Alhusaini, S.; Shianna, K. V.; Radtke, R. A.; Heinzen, E. L.; Walley, N.; Pandolfo, M.; Pichler, W.; Park, B. K.; Depondt, C.; Sisodiya, S. M.; Goldstein, D. B.; Deloukas, P.; Delanty, N.; Cavalleri, G. L.; Pirmohamed, M. HLA-Aß3101 and carbamazepine-induced hypersensitivity reactions in Europeans. N. Engl. J. Med., 2011, 364(12), 1134-43.
11. Ozeki, T.; Mushiroda, T.; Yowang, A.; Takahashi, A.; Kubo, M.; Shirakata, Y.; Ikezawa, Z.; Iijima, M.; Shiohara, T.; Hashimoto, K.; Kamatani, N.; Nakamura, Y. Genome-wide association study identifies HLA-Aß3101 allele as a genetic risk factor for carbamazepine- induced cutaneous adverse drug reactions in Japanese population. Hum. Mol. Genet., 2011, 20(5), 1034-41.
12. Hung, S. I.; Chung, W. H.; Liou, L. B.; Chu, C. C.; Lin, M.; Huang, H. P.; Lin, Y. L.; Lan, J. L.; Yang, L. C.; Hong, H. S.; Chen, M. J.; Lai, P. C.; Wu, M. S.; Chu, C. Y.; Wang, K. H.; Chen, C. H.; Fann, C. S.; Wu, J. Y.; Chen, Y. T. HLA-Bß5801 allele as a genetic marker for severe cutaneous adverse reactions caused by allopurinol. Proc. Natl. Acad. Sci. U. S. A., 2005,102(11), 4134-9.
13. Lonjou, C.; Borot, N.; Sekula, P.; Ledger, N.; Thomas, L.; Halevy, S.; Naldi, L.; Bouwes-Bavinck, J. N.; Sidoroff, A.; de Toma, C.; Schumacher, M.; Roujeau, J. C.; Hovnanian, A.; Mockenhaupt, M. A European study of HLA-B in Stevens-Johnson syndrome and toxic epidermal necrolysis related to five high-risk drugs. Pharmacogenet. Genomics, 2008, 18(2), 99-107.
14. Littera, R.; Carcassi, C.; Masala, A.; Piano, P.; Serra, P.; Ortu, F.; Corso, N.; Casula, B.; La Nasa, G.; Contu, L.; Manconi, P. E. HLA-dependent hypersensitivity to nevirapine in Sardinian HIV patients. Aids, 2006, 20(12), 1621-6.
15. Gatanaga, H.; Yazaki, H.; Tanuma, J.; Honda, M.; Genka, I.; Teruya, K.; Tachikawa, N.; Kikuchi, Y.; Oka, S. HLA-Cw8 primarily associated with hypersensitivity to nevirapine. Aids, 2007, 21(2), 264-5.
16. Chantarangsu, S.; Mushiroda, T.; Mahasirimongkol, S.; Kiertiburanakul, S.; Sungkanuparph, S.; Manosuthi, W.; Tantisiriwat, W.; Charoenyingwattana, A.; Sura, T.; Chantratita, W.; Nakamura, Y.HLA-Bß3505 allele is a strong predictor for nevirapine-induced skin adverse drug reactions in HIV-infected Thai patients. Pharmacogenet. Genomics, 2009, 19(2), 139-46.
17. Yuan, J.; Guo, S.; Hall, D.; Cammett, A. M.; Jayadev, S.; Distel, M.; Storfer, S.; Huang, Z.; Mootsikapun, P.; Ruxrungtham, K.; Podzamczer, D.; Haas, D. W. Toxicogenomics of nevirapineassociated cutaneous and hepatic adverse events among populations of African, Asian, and European descent. Aids, 2011, 25(10), 1271-1280.
18. Carr, D. F.; Chaponda, M.; Jorgensen, A. L.; Castro, E. C.; van Oosterhout, J. J.; Khoo, S. H.; Lalloo, D. G.; Heyderman, R. S.; Alfirevic, A.; Pirmohamed, M. Association of human leukocyte antigen alleles and nevirapine hypersensitivity in a Malawian HIVinfected population. Clin. Infect. Dis., 2013, 56(9), 1330-9.
19. Otsuka, S.; Yamamoto, M.; Kasuya, S.; Ohtomo, H.; Yamamoto, Y.; Yoshida, T. O.; Akaza, T. HLA antigens in patients with unexplained hepatitis following halothane anesthesia. Acta Anaesthesiol. Scand., 1985, 29(5), 497-501.
20. Hautekeete, M. L.; Horsmans, Y.; van Waeyenberge, C.; Demanet, C.; Henrion, J.; Verbist, L.; Brenard, R.; Sempoux, C.; Michielsen, P. P.; Yap, P. S. H.; Rahier, J.; Geubel, A. P. HLA association of amoxicillin-clavulanate- induced hepatitis. Gastroenterology, 1999, 117(5), 1181-1186.
21. O'Donohue, J.; Oien, K. A.; Donaldson, P.; Underhill, J.; Clare, M.; MacSween, R. M.; Mills, P. R.: Co-amoxiclav jaundice: clinical and histological features and HLA class II association. Gut, 2000, 47 (5), 717-720.
22. Daly, A. K.; Donaldson, P. T.; Bhatnagar, P.; Shen, Y.; Pe'er, I.; Floratos, A.; Daly, M. J.; Goldstein, D. B.; John, S.; Nelson, M. R.; Graham, J.; Park, B. K.; Dillon, J. F.; Bernal, W.; Cordell, H. J.; Pirmohamed, M.; Aithal, G. P.; Day, C. P. HLA-Bß5701 genotype is a major determinant of drug-induced liver injury due to flucloxacillin. Nature Genetics, 2009, 41, 816-819.
23. Monshi, M. M.; Faulkner, L.; Gibson, A.; Jenkins, R. E.; Farrell, J.; Earnshaw, C. J.; Alfirevic, A.; Cederbrant, K.; Daly, A. K.; French, N.; Pirmohamed, M.; Park, B. K.; Naisbitt, D. J. Human leukocyte antigen (HLA)-Bß57:01-restricted activation of drug-specific T cells provides the immunological basis for flucloxacillin-induced liver injury. Hepatology, 2013, 57, (2), 727-39.
24. Wuillemin, N.; Adam, J.; Fontana, S.; Krahenbuhl, S.; Pichler, W. J.; Yerly, D. HLA haplotype determines hapten or p-i T cell reactivity to flucloxacillin. J. Immunol., 2013, 190, (10), 4956-64.
25. Urban, T. J.; Shen, Y.; Stolz, A.; Chalasani, N.; Fontana, R. J.; Rochon, J.; Ge, D.; Shianna, K. V.; Daly, A. K.; Lucena, M. I.; Nelson, M. R.; Molokhia, M.; Aithal, G. P.; Floratos, A.; Pe'er, I.; Serrano, J.; Bonkovsky, H.; Davern, T. J.; Lee, W. M.; Navarro, V. J.; Talwalkar, J. A.; Goldstein, D. B.; Watkins, P. B. Limited contribution of common genetic variants to risk for liver injury due to a variety of drugs. Pharmacogenet. Genomics, 2012, 22(11), 784-95.
26. Phillips, E. J.; Mallal, S. A. Pharmacogenetics of drug hypersensitivity. Pharmacogenomics, 2010, 11(7), 973-87.
27. Alfirevic, A.; Pirmohamed, M. Predictive genetic testing for druginduced liver injury: considerations of clinical utility. Clin.Pharmacol. Ther., 2012, 92(3), 376-80.
28. Lucena, M. I.; Molokhia, M.; Shen, Y.; Urban, T. J.; Aithal, G. P.; Andrade, R. J.; Day, C. P.; Ruiz-Cabello, F.; Donaldson, P. T.; Stephens, C.; Pirmohamed, M.; Romero-Gomez, M.; Navarro, J. M.; Fontana, R. J.; Miller, M.; Groome, M.; Bondon-Guitton, E.; Conforti, A.; Stricker, B. H.; Carvajal, A.; Ibanez, L.; Yue, Q. Y.; Eichelbaum, M.; Floratos, A.; Pe'er, I.; Daly, M. J.; Goldstein, D. B.; Dillon, J. F.; Nelson, M. R.; Watkins, P. B.; Daly, A. K. Susceptibility to Amoxicillin-Clavulanate-Induced Liver Injury Is Influenced by Multiple HLA Class I and II Alleles. Gastroenterology, 2011, 141(1), 338-47.
29. Bjornsson, E. S.; Bergmann, O. M.; Bjornsson, H. K.; Kvaran, R. B.; Olafsson, S. Incidence, presentation, and outcomes in patients with drug-induced liver injury in the general population of Iceland. Gastroenterology, 2013, 144(7), 1419-25, 1425 e1-3; quiz e19-20.
30. Russmann, S.; Kaye, J. A.; Jick, S. S.; Jick, H. Risk of cholestatic liver disease associated with flucloxacillin and flucloxacillin prescribing habits in the UK: cohort study using data from the UK General Practice Research Database. Br. J. Clin. Pharmacol., 2005, 60(1), 76-82.
31. Payne, P. W., Jr. For Asians only? The perils of ancestry-based drug prescribing. J. Law Med. Ethics, 2008, 36(3), 585-8.
32. Bentley, G.; Higuchi, R.; Hoglund, B.; Goodridge, D.; Sayer, D.; Trachtenberg, E. A.; Erlich, H. A. High-resolution, high-throughput HLA genotyping by next-generation sequencing. Tissue Antigens, 2009, 74(5), 393-403.
33. Chang, Y. J.; Huang, X. J. Haploidentical bone marrow transplantation without T-cell depletion. Semin. Oncol., 2012, 39(6), 653-63.
34. Howard, R.; Leathart, J. B. S.; French, D. J.; Krishan, E.; Kohnke, H.; Wadelius, M.; van Schie, R.; Verhoef, T.; Maitland-van der Zee, A.-H.; Daly, A. K.; Barallon, R. Genotyping for CYP2C9 and VKORC1 alleles by a novel point of care assay with HyBeacon (R) probes. Clinica Chimica Acta, 2011, 412 (23-24), 2063-2069.
35. Roberts, J. D.; Wells, G. A.; Le May, M. R.; Labinaz, M.; Glover, C.; Froeschl, M.; Dick, A.; Marquis, J. F.; O'Brien, E.; Goncalves, S.; Druce, I.; Stewart, A.; Gollob, M. H.; So, D. Y. Point-of-care genetic testing for personalisation of antiplatelet treatment (RAPID GENE): a prospective, randomised, proof-of-concept trial. Lancet, 2012, 379 (9827), 1705-11.
36. Stocchi, L.; Cascella, R.; Zampatti, S.; Pirazzoli, A.; Novelli, G.; Giardina, E. The Pharmacogenomic HLA Biomarker Associated to Adverse Abacavir Reactions: Comparative Analysis of Different Genotyping Methods. Curr. Genomics, 2012, 13(4), 314-20.
37. Martin, A. M.; Krueger, R.; Almeida, C. A.; Nolan, D.; Phillips, E.; Mallal, S. A sensitive and rapid alternative to HLA typing as a genetic screening test for abacavir hypersensitivity syndrome. Pharmacogenet. Genomics, 2006, 16(5), 353-7.
38. Martin, A. M.; Nolan, D.; Mallal, S. HLA-Bß5701 typing by sequence- specific amplification: validation and comparison with sequence- based typing. Tissue Antigens, 2005, 65(6), 571-4.
39. Lalonde, R. G.; Thomas, R.; Rachlis, A.; Gill, M. J.; Roger, M.; Angel, J. B.; Smith, G.; Higgins, N.; Trottier, B. Successful implementation of a national HLA-Bß5701 genetic testing service in Canada. Tissue Antigens, 2010, 75(1), 12-8.
40. Colombo, S.; Rauch, A.; Rotger, M.; Fellay, J.; Martinez, R.; Fux, C.; Thurnheer, C.; Gunthard, H. F.; Goldstein, D. B.; Furrer, H.; Telenti, A. The HCP5 single-nucleotide polymorphism: a simple screening tool for prediction of hypersensitivity reaction to abacavir. J. Infect. Dis., 2008, 198(6), 864-7.
41. Galvan, C. A.; Elbarcha, O. C.; Fernandez, E. J.; Beltramo, D. M.; Soria, N. W. Rapid HCP5 single-nucleotide polymorphism genotyping: a simple allele-specific PCR method for prediction of hypersensitivity reaction to Abacavir. Clin. Chim. Acta, 2011, 412(15-16), 1382-4.
42. Sanchez-Giron, F.; Villegas-Torres, B.; Jaramillo-Villafuerte, K.; Silva-Zolezzi, I.; Fernandez-Lopez, J. C.; Jimenez-Sanchez, G.; Carnevale, A. Association of the genetic marker for abacavir hypersensitivity HLA-Bß5701 with HCP5 rs2395029 in Mexican Mestizos. Pharmacogenomics, 2011, 12(6), 809-14.
43. Badulli, C.; Sestini, R.; Sbarsi, I.; Baroncelli, M.; Pizzochero, C.; Martinetti, M.; Porfirio, B. Tag SNPs of the ancestral haplotype 57.1 do not substitute HLA-Bß57:01 typing for eligibility to abacavir treatment in the Italian population. Pharmacogenomics, 2012, 13(3), 247-9.
44. Saag, M.; Balu, R.; Phillips, E.; Brachman, P.; Martorell, C.; Burman, W.; Stancil, B.; Mosteller, M.; Brothers, C.; Wannamaker, P.; Hughes, A.; Sutherland-Phillips, D.; Mallal, S.; Shaefer, M. High sensitivity of human leukocyte antigen-bß5701 as a marker for immunologically confirmed abacavir hypersensitivity in white and black patients. Clin. Infect. Dis., 2008, 46(7), 1111-8.
45. Park, W. B.; Choe, P. G.; Song, K. H.; Lee, S.; Jang, H. C.; Jeon, J. H.; Park, S. W.; Park, M. H.; OH, M. D.; Choe, K. W.Should HLABß 5701 Screening Be Performed in Every Ethnic Group before Starting Abacavir? Clin. Infect. Dis., 2009, 48(3), 365-367.
46. Yoon, J. H.; Kim, M.; Jin, S. J.; Kim, S. K.; Lee, S. H.; Cheon, J.; Yun, G. y.; Kim, M. K.; Ha, J.; Song, Y. G.The First Case of Abacavir Hypersensitivity Associated with the HLA-Bß57:01- Positive Allele in Korea. Infect. Chemother., 2012, 44(5), 399-402.
47. Rabie, H.; Henning, K. L.; Schoeman, P.; de Villiers, N.; Pretorius, G. H. J.; Cotton, M. F.Abacavir: its use and hypersensitity. South Afr. J. HIV Med., 2009, 36, 81-84.
48. Singer, J. B.; Lewitzky, S.; Leroy, E.; Yang, F.; Zhao, X.; Klickstein, L.; Wright, T. M.; Meyer, J.; Paulding, C. A.A genome-wide study identifies HLA alleles associated with lumiracoxib-related liver injury. Nat. Genet., 2010, 42, 711-4.
49. Spraggs, C. F.; Budde, L. R.; Briley, L. P.; Bing, N.; Cox, C. J.; King, K. S.; Whittaker, J. C.; Mooser, V. E.; Preston, A. J.; Stein, S. H.; Cardon, L. R.HLA-DQA1ß02:01 Is a Major Risk Factor for Lapatinib-Induced Hepatotoxicity in Women With Advanced Breast Cancer. J. Clin. Oncol., 2011, 29(6), 667-73.
50. Martin, A. M.; Nolan, D.; James, I.; Cameron, P.; Keller, J.; Moore, C.; Phillips, E.; Christiansen, F. T.; Mallal, S.Predisposition to nevirapine hypersensitivity associated with HLA-DRB1ß0101 and abrogated by low CD4 T-cell counts. Aids, 2005, 19(1), 97-9.
51. Hirata, K.; Takagi, H.; Yamamoto, M.; Matsumoto, T.; Nishiya, T.; Mori, K.; Shimizu, S.; Masumoto, H.; Okutani, Y.Ticlopidineinduced hepatotoxicity is associated with specific human leukocyte antigen genomic subtypes in Japanese patients: a preliminary casecontrol study. Pharmacogenomics J., 2008, 8(1), 29-33.
52. Kindmark, A.; Jawaid, A.; Harbron, C. G.; Barratt, B. J.; Bengtsson, O. F.; Andersson, T. B.; Carlsson, S.; Cederbrant, K. E.; Gibson, N. J.; Armstrong, M.; Lagerstrom-Fermer, M. E.; Dellsen, A.; Brown, E. M.; Thornton, M.; Dukes, C.; Jenkins, S. C.; Firth, M. A.; Harrod, G. O.; Pinel, T. H.; Billing-Clason, S. M.; Cardon, L. R.; March, R. E.Genome-wide pharmacogenetic investigation of a hepatic adverse event without clinical signs of immunopathology suggests an underlying immune pathogenesis. Pharmacogenomics J., 2008, 8, 186-95.