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Stevens-Johnson syndrome/toxic epidermal necrolysis: Pharmacogenetic associations in different populations

Stevens-Johnson syndrome/toxic epidermal necrolysis: Pharmacogenetic associations in different populations
Associated drug HLA allele Population
Carbamazepine B*1502 Han Chinese, Thai, Malaysian, Singaporean, Indian, Japanese, Korean[1-7]
B*1511 Han Chinese, Japanese, Korean[8-9]
B*5701 European[10]
A*31:01 (for DRESS and SJS/TEN) European, Japanese, Korean[11-13]
Oxcarbazepine B*1502 Han Chinese, Thai[14]
Allopurinol B*5801

Han Chinese[15]

European[16]

Japanese[17]

Thai[18]

Korean[19]
Phenytoin B*15:02 Han Chinese, Thai, Malaysian[20]
B*13:01 East Asian[21]
B*51:01 East Asian[22]
B*38:02 Thai[23]
B*15:13 Malaysian[24]
CYP2C9*3 Han Chinese, Japanese, Malaysian, Thai[25]
Lamotrigine B*15:02 Han Chinese, Thai[20]
B*38 European[10]
HLA-A*31:01 Korean[26]
Dapsone B*13:01 Southeast Asian[27]
Sulfamethoxazole

A*29

B*38		 European[10]
B*15:02 Thai[28]
C*06-02 Thai[28,29]
C*08:01 Thai[30]
Methazolamide B*59:01 Korean/Japanese/Han Chinese[31]
Oxicam NSAIDs B*73 European[10]
Nevirapine C*04-01 Malawian[32]
Strontium ranelate A*33:03 Han Chinese[33,34]
DRESS: drug reaction with eosinophilia and systemic symptoms; HLA: human leukocyte antigen; NSAID: nonsteroidal anti-inflammatory drug; SJS: Stevens-Johnson syndrome; TEN: toxic epidermal necrolysis.
References:
  1. Chung WH, Hung SI, Hong HS, et al. Medical genetics: A marker for Stevens-Johnson syndrome. Nature 2004; 428:486.
  2. Tangamornsuksan W, Chaiyakunapruk N, Somkrua R, et al. Relationship between the HLA-B*1502 allele and carbamazepine-induced Stevens-Johnson syndrome and toxic epidermal necrolysis: A systematic review and meta-analysis. JAMA Dermatol 2013; 149:1025.
  3. Man CB, Kwan P, Baum L, et al. Association between HLA-B*1502 allele and antiepileptic drug-induced cutaneous reactions in Han Chinese. Epilepsia 2007; 48:1015.
  4. 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.
  5. 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.
  6. Kwan PK, Ng MH, Lo SV. Association between HLA-B*15:02 allele and antiepileptic drug-induced severe cutaneous reactions in Hong Kong Chinese: A population-based study. Hong Kong Med J 2014; 20 Suppl 7:16.
  7. Chang CC, Too CL, Murad S, Hussein SH. Association of HLA-B*1502 allele with carbamazepine-induced toxic epidermal necrolysis and Stevens-Johnson syndrome in the multi-ethnic Malaysian population. Int J Dermatol 2011; 50:221.
  8. Kaniwa N, Saito Y, Aihara M, et al. HLA-B*1511 is a risk factor for carbamazepine-induced Stevens-Johnson syndrome and toxic epidermal necrolysis in Japanese patients. Epilepsia 2010; 51:2461.
  9. Sun D, Yu CH, Liu ZS, et al. Association of HLA-B*1502 and *1511 allele with antiepileptic drug-induced Stevens-Johnson syndrome in central China. J Huazhong Univ Sci Technolog Med Sci 2014; 34:146.
  10. Mockenhaupt M, Wang CW, Hung SI, et al. HLA-B*57:01 confers genetic susceptibility to carbamazepine-induced SJS/TEN in Europeans. Allergy 2019; 74:2227.
  11. 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.
  12. McCormack M, Alfirevic A, Bourgeois S, et al. HLA-A*3101 and carbamazepine-induced hypersensitivity reactions in Europeans. N Engl J Med 2011; 364:1134.
  13. Kim SH, Lee KW, Song WJ, et al. Carbamazepine-induced severe cutaneous adverse reactions and HLA genotypes in Koreans. Epilepsy Res 2011; 97:190.
  14. Chen CB, Hsiao YH, Wu T, et al. Risk and association of HLA with oxcarbazepine-induced cutaneous adverse reactions in Asians. Neurology 2017; 88:78.
  15. Hung SI, Chung WH, Liou LB, et al. HLA-B*5801 allele as a genetic marker for severe cutaneous adverse reactions caused by allopurinol. Proc Natl Acad Sci U S A 2005; 102:4134.
  16. 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.
  17. Kaniwa N, Saito Y, Aihara M, et al. HLA-B locus in Japanese patients with anti-epileptics and allopurinol-related Stevens-Johnson syndrome and toxic epidermal necrolysis. Pharmacogenomics 2008; 9:1617.
  18. Tassaneeyakul W, Jantararoungtong T, Chen P, et al. Strong association between HLA-B*5801 and allopurinol-induced Stevens-Johnson syndrome and toxic epidermal necrolysis in a Thai population. Pharmacogenet Genomics 2009; 19:704.
  19. Kang HR, Jee YK, Kim YS, et al. Positive and negative associations of HLA class I alleles with allopurinol-induced SCARs in Koreans. Pharmacogenet Genomics 2011; 21:303.
  20. Hung SI, Chung WH, Liu ZS, et al. Common risk allele in aromatic antiepileptic-drug induced Stevens-Johnson syndrome and toxic epidermal necrolysis in Han Chinese. Pharmacogenomics 2010; 11:349.
  21. Su SC, Chen CB, Chang WC, et al. HLA alleles and CYP2C9*3 as predictors of phenytoin hypersensitivity in East Asians. Clin Pharmacol Ther 2019; 105:476.
  22. John S, Balakrishnan K, Sukasem C, et al. Association of HLA-B*51:01, HLA-B*55:01, CYP2C9*3, and phenytoin-induced cutaneous adverse drug reactions in the South Indian Tamil Population. J Pers Med 2021; 11:737.
  23. Manuyakorn W, Likkasittipan P, Wattanapokayakit S, et al. Association of HLA genotypes with phenytoin induced severe cutaneous adverse drug reactions in Thai children. Epilepsy Res 2020; 162:106321.
  24. Chang CC, Ng CC, Too CL, et al. Association of HLA-B*15:13 and HLA-B*15:02 with phenytoin-induced severe cutaneous adverse reactions in a Malay population. Pharmacogenomics J 2017; 17:170.
  25. Chung WH, Chang WC, Lee YS, et al. Genetic variants associated with phenytoin-related severe cutaneous adverse reactions. JAMA 2014; 312:525.
  26. Kim BK, Jung JW, Kim TB, et al. HLA-A*31:01 and lamotrigine-induced severe cutaneous adverse drug reactions in a Korean population. Ann Allergy Asthma Immunol 2017; 118:629.
  27. Tempark T, Satapornpong P, Rerknimitr P, et al. Dapsone-induced severe cutaneous adverse drug reactions are strongly linked with HLA-B*13: 01 allele in the Thai population. Pharmacogenet Genomics 2017; 27:429.
  28. Sukasem C, Pratoomwun J, Satapornpong P, et al. Genetic association of co-trimoxazole-induced severe cutaneous adverse reactions is phenotype-specific: HLA class I genotypes and haplotypes. Clin Pharmacol Ther 2020; 108:1078.
  29. Nakkam N, Saksit N, Konyoung P, et al. Associations of HLA and drug-metabolizing enzyme genes in co-trimoxazole-induced severe cutaneous adverse reactions. Drug Metab Pharmacokinet 2022; 47:100480.
  30. Kongpan T, Mahasirimongkol S, Konyoung P, et al. Candidate HLA genes for prediction of co-trimoxazole-induced severe cutaneous reactions. Pharmacogenet Genomics 2015; 25:402.
  31. Kim SH, Kim M, Lee KW, et al. HLA-B*5901 is strongly associated with methazolamide-induced Stevens-Johnson syndrome/toxic epidermal necrolysis. Pharmacogenomics 2010; 11:879.
  32. Carr DF, Chaponda M, Jorgensen AL, et al. Association of human leukocyte antigen alleles and nevirapine hypersensitivity in a Malawian HIV-infected population. Clin Infect Dis 2013; 56:1330.
  33. Lee HY, Shen MX, Lim YL, et al. Increased risk of strontium ranelate-related SJS/TEN is associated with HLA. Osteoporos Int 2016; 27:2577.
  34. Chen CB, Chen YE, Chu MT, et al. The risk of anti-osteoporotic agent-induced severe cutaneous adverse drug reactions and their association with HLA. J Eur Acad Dermatol Venereol 2021; 35:712.
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