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Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe.

Abstract : UNLABELLED: ABSTRACT: BACKGROUND: Stevens-Johnson syndrome (SJS) and Toxic Epidermal Necrolysis (TEN) are rare but extremely severe cutaneous adverse drug reactions in which drug-specific associations with HLA-B alleles were described. OBJECTIVES: To investigate genetic association at a genome-wide level on a large sample of SJS/TEN patients. METHODS: We performed a genome wide association study on a sample of 424 European cases and 1,881 controls selected from a Reference Control Panel. RESULTS: Six SNPs located in the HLA region showed significant evidence for association (OR range: 1.53-1.74). The haplotype formed by their risk allele was more associated with the disease than any of the single SNPs and was even much stronger in patients exposed to allopurinol (ORallopurinol = 7.77, 95%CI = [4.66; 12.98]). The associated haplotype is in linkage disequilibrium with the HLA-B*5801 allele known to be associated with allopurinol induced SJS/TEN in Asian populations. CONCLUSION: The involvement of genetic variants located in the HLA region in SJS/TEN is confirmed in European samples, but no other locus reaches genome-wide statistical significance in this sample that is also the largest one collected so far. If some loci outside HLA play a role in SJS/TEN, their effect is thus likely to be very small.
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https://www.hal.inserm.fr/inserm-00624798
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Submitted on : Monday, September 19, 2011 - 5:40:33 PM
Last modification on : Friday, October 23, 2020 - 4:48:20 PM
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Emmanuelle Génin, Martin Schumacher, Jean-Claude Roujeau, Luigi Naldi, Yvonne Liss, et al.. Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe.. Orphanet Journal of Rare Diseases, BioMed Central, 2011, 6 (1), pp.52. ⟨10.1186/1750-1172-6-52⟩. ⟨inserm-00624798⟩

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