HLA-A*3101 and carbamazepine-induced hypersensitivity reactions in Europeans

New England Journal of Medicine

Volumn 364, Issue 12, 2011, Pages 1134-1143

  McCormack, Mark ^a   Alfirevic, Ana ^c   Bourgeois, Stephane ^e   Farrell, John J ^g   Kasperavičiute, Dalia ^k   Carrington, Mary ^h,n   Sills, Graeme J ^c   Marson, Tony ^c,d   Jia, Xiaoming ⁱ   De Bakker, Paul I W ^j,o,p   Chinthapalli, Krishna ^f,k   Molokhia, Mariam ^l   Johnson, Michael R ^m   O'Connor, Gerard D ^b   Chaila, Elijah ^b   Alhusaini, Saud ^a   Shianna, Kevin V ^q   Radtke, Rodney A ^q   Heinzen, Erin L ^q   Walley, Nicole ^q   Pandolfo, Massimo ^r   Pichler, Werner ^s   Park, B Kevin ^c   Depondt, Chantal ^r   Sisodiya, Sanjay M ^f,k   Goldstein, David B ^q   Deloukas, Panos ^e   Delanty, Norman ^a,b   Cavalleri, Gianpiero L ^a   Pirmohamed, Munir ^c   more..

^a ROYAL COLLEGE OF SURGEONS IN IRELAND   (Ireland)

^b BEAUMONT HOSPITAL   (Ireland)

^c UNIVERSITY OF LIVERPOOL   (United Kingdom)

^d WALTON CENTRE FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

^e WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^f EPILEPSY SOCIETY   (United Kingdom)

^g BOSTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^h HARVARD UNIVERSITY   (United States)

ⁱ HARVARD MIT DIVISION OF HEALTH SCIENCES AND TECHNOLOGY   (United States)

^j BRIGHAM AND WOMEN S HOSPITAL   (United States)

^k UNIVERSITY COLLEGE LONDON   (United Kingdom)

^l KING'S COLLEGE LONDON   (United Kingdom)

^m IMPERIAL COLLEGE LONDON   (United Kingdom)

ⁿ SAIC FREDERICK INC   (United States)

^o MASSACHUSETTS INSTITUTE OF TECHNOLOGY   (United States)

^p UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^q DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^r ERASME HOSPITAL   (Belgium)

^s UNIVERSITY OF BERN   (Switzerland)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CARBAMAZEPINE; HLA A ANTIGEN; HLA A3101 ANTIGEN; UNCLASSIFIED DRUG; ANTICONVULSIVE AGENT; HLA A*3101 ANTIGEN, HUMAN; HLA-A*3101 ANTIGEN, HUMAN;

ARTICLE; CONTROLLED STUDY; DRUG HYPERSENSITIVITY; DRUG INDUCED DISEASE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HLA TYPING; HUMAN; MACULOPAPULAR RASH; MAJOR CLINICAL STUDY; POPULATION RESEARCH; PREVALENCE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; STEVENS JOHNSON SYNDROME; TOXIC EPIDERMAL NECROLYSIS; CAUCASIAN; CHEMICALLY INDUCED DISORDER; GENETICS; HISTOCOMPATIBILITY TEST; RASH;

ANTICONVULSANTS; CARBAMAZEPINE; DRUG HYPERSENSITIVITY; EUROPEAN CONTINENTAL ANCESTRY GROUP; EXANTHEMA; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HISTOCOMPATIBILITY TESTING; HLA-A ANTIGENS; HUMANS; POLYMORPHISM, SINGLE NUCLEOTIDE; STEVENS-JOHNSON SYNDROME;

EID: 79953197983     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJMoa1013297     Document Type: Article

References (40)

1. Roujeau JC. Clinical heterogeneity of drug hypersensitivity. Toxicology 2005;209:123-9.
2. Syn WK, Naisbitt DJ, Holt AP, Pirmohamed M, Mutimer DJ. Carbamazepineinduced acute liver failure as part of the DRESS syndrome. Int J Clin Pract 2005;59: 988-91. [Erratum, Int J Clin Pract 2005;59:1371.]
3. Daly AK, Donaldson PT, Bhatnagar P, et al. HLA-B*5701 genotype is a major determinant of drug-induced liver injury due to flucloxacillin. Nat Genet 2009;41:816-9.
4. Chung WH, Hung SI, Hong HS, et al. Medical genetics: a marker for Stevens- Johnson syndrome. Nature 2004;428:486.
5. Chen P, Lin J-J, Lu C-S, et al. Carbamazepine- induced toxic effects and HLA-B* 1502 screening in Taiwan. N Engl J Med 2011;364:1126-33.
6. Ding WY, Lee CK, Choon SE. Cutaneous adverse drug reactions seen in a tertiary hospital in Johor, Malaysia. Int J Dermatol 2010;49:834-41.
7. Locharernkul C, Loplumlert J, Limotai C, et al. Carbamazepine and phenytoin induced Stevens-Johnson syndrome is associated with HLA-B*1502 allele in Thai population. Epilepsia 2008;49:2087-91. [Erratum, Epilepsia 2009;50:971.]
8. Mehta TY, Prajapati LM, Mittal B, et al. Association of HLA-B*1502 allele and carbamazepine-induced Stevens-Johnson syndrome among Indians. Indian J Dermatol Venereol Leprol 2009;75:579-82.
9. Alfirevic A, Jorgensen AL, Williamson PR, Chadwick DW, Park BK, Pirmohamed M. HLA-B locus in Caucasian patients with carbamazepine hypersensitivity. Pharmacogenomics 2006;7:813-8. (Pubitemid 44446732)
10. Lonjou C, Borot N, Sekula P, et al. A European study of HLA-B in Stevens- Johnson syndrome and toxic epidermal necrolysis related to five high-risk drugs. Pharmacogenet Genomics 2008;18:99-107.
11. Lonjou C, Thomas L, Borot N, et al. A marker for Stevens-Johnson syndrome: ethnicity matters. Pharmacogenomics J 2006;6:265-8. (Pubitemid 44137953)
12. Ferrell PB Jr, McLeod HL. Carbamazepine, HLA-B*1502 and risk of Stevens- Johnson syndrome and toxic epidermal necrolysis: US FDA recommendations. Pharmacogenomics 2008;9:1543-6.
13. Alfirevic A, Mills T, Harrington P, et al. Serious carbamazepine-induced hypersensitivity reactions associated with the HSP70 gene cluster. Pharmacogenet Genomics 2006;16:287-96.
14. Hung SI, Chung WH, Jee SH, et al. Genetic susceptibility to carbamazepine-induced cutaneous adverse drug reactions. Pharmacogenet Genomics 2006;16:297-306.
15. Kashiwagi M, Aihara M, Takahashi Y, et al. Human leukocyte antigen genotypes in carbamazepine-induced severe cutaneous adverse drug response in Japanese patients. J Dermatol 2008;35:683-5.
16. Pirmohamed M, Lin K, Chadwick D, Park BK. TNFalpha promoter region gene polymorphisms in carbamazepine-hypersensitive patients. Neurology 2001;56:890-6. (Pubitemid 32290806)
17. Kardaun SH, Sidoroff A, Valeyrie-Allanore L, et al. Variability in the clinical pattern of cutaneous side-effects of drugs with systemic symptoms: does a DRESS syndrome really exist? Br J Dermatol 2007;156:609-11.
18. Speeckaert MM, Speeckaert R, Lambert J, Brochez L. Acute generalized exanthematous pustulosis: an overview of the clinical, immunological and diagnostic concepts. Eur J Dermatol 2010;20:425-33.
19. Auquier-Dunant A, Mockenhaupt M, Naldi L, Correia O, Schröder W, Roujeau JC. Correlations between clinical patterns and causes of erythema multiforme majus, Stevens-Johnson syndrome, and toxic epidermal necrolysis: results of an international prospective study. Arch Dermatol 2002;138:1019-24.
20. The International HIV Controllers Study (2010). The major genetic determinants of HIV-1 control affect HLA class I peptide presentation. Science 2010;330(6010):1551-7.
21. Li Y, Willer CJ, Ding J, Scheet P, Abecasis GR. MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes. Genet Epidemiol 2010:34:816-34.
22. de Bakker PI, McVean G, Sabeti PC, et al. A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC. Nat Genet 2006;38:1166-72. (Pubitemid 44470362)
23. Purcell S, Neale B, Todd-Brown K, et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 2007;81:559-75. (Pubitemid 47330214)
24. Barrett JC, Fry B, Maller J, Daly MJ. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 2005;21:263-5. (Pubitemid 40202029)
25. Hetherington S, Hughes AR, Mosteller M, et al. Genetic variations in HLA-B region and hypersensitivity reactions to abacavir. Lancet 2002;359:1121-2. (Pubitemid 34270738)
26. Mallal S, Nolan D, Witt C, et al. Association between presence of HLA-B*5701, HLA-DR7, and HLA-DQ3 and hypersensitivity to HIV-1 reverse-transcriptase inhibitor abacavir. Lancet 2002;359:727-32.
27. Mallal S, Phillips E, Carosi G, et al. HLA-B*5701 screening for hypersensitivity to abacavir. N Engl J Med 2008;358:568-79.
28. Donaldson PT, Daly AK, Henderson J, et al. Human leucocyte antigen class II genotype in susceptibility and resistance to co-amoxiclav-induced liver injury. J Hepatol 2010;53:1049-53.
29. Hughes DA, Vilar FJ, Ward CC, Alfirevic A, Park BK, Pirmohamed M. Costeffectiveness analysis of HLA B*5701 genotyping in preventing abacavir hypersensitivity. Pharmacogenetics 2004;14:335-42. (Pubitemid 38813687)
30. Saag M, Balu R, Phillips E, et al. High sensitivity of human leukocyte antigen- B*5701 as a marker for immunologically confirmed abacavir hypersensitivity in white and black patients. Clin Infect Dis 2008;46:1111-8. (Pubitemid 351589880)
31. Schackman BR, Scott CA, Walensky RP, Losina E, Freedberg KA, Sax PE. The cost-effectiveness of HLA-B*5701 genetic screening to guide initial antiretroviral therapy for HIV. AIDS 2008;22:2025-33.
32. Ozeki T, Mushiroda T, Yowang A, et al. Genome-wide association study identifies HLA-A*3101 allele as a genetic risk factor for carbamazepine-induced cutaneous adverse drug reactions in Japanese population. Hum Mol Genet 2011;20:1034-41.
33. Britschgi M, Steiner UC, Schmid S, et al. T-cell involvement in drug-induced acute generalized exanthematous pustulosis. J Clin Invest 2001;107:1433-41. (Pubitemid 32522037)
34. Schmidt AH, Baier D, Solloch UV, et al. Estimation of high-resolution HLA-A, -B, -C, -DRB1 allele and haplotype frequencies based on 8862 German stem cell donors and implications for strategic donor registry planning. Hum Immunol 2009;70:895-902.
35. Wen SH, Lai MJ, Yang KL. Human leukocyte antigen-A, -B, and -DRB1 haplotypes of cord blood units in the Tzu Chi Taiwan Cord Blood Bank. Hum Immunol 2008;69:430-6.
36. Zucman D, Truchis P, Majerholc C, Stegman S, Caillat-Zucman S. Prospective screening for human leukocyte antigen- B*5701 avoids abacavir hypersensitivity reaction in the ethnically mixed French HIV population. J Acquir Immune Defic Syndr 2007;45:1-3. (Pubitemid 46684436)
37. Lerch M, Pichler WJ. The immunological and clinical spectrum of delayed drug-induced exanthems. Curr Opin Allergy Clin Immunol 2004;4:411-9. (Pubitemid 39274083)
38. Wu Y, Farrell J, Pirmohamed M, Park BK, Naisbitt DJ. Generation and characterization of antigen-specific CD4+, CD8+, and CD4+CD8+ T-cell clones from patients with carbamazepine hypersensitivity. J Allergy Clin Immunol 2007;119:973-81. (Pubitemid 46527813)
39. Chelvanayagam G. A roadmap for HLA-A, HLA-B, and HLA-C peptide binding specificities. Immunogenetics 1996;45:15-26.
40. Marson AG, Al-Kharusi AM, Alwaidh M, et al. The SANAD study of effectiveness of carbamazepine, gabapentin, lamotrigine, oxcarbazepine, or topiramate for treatment of partial epilepsy: an unblinded randomised controlled trial. Lancet 2007;369:1000-15. (Pubitemid 46436124)