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.
Type de document :
Article dans une revue
Orphanet Journal of Rare Diseases, BioMed Central, 2011, 6 (1), pp.52. 〈10.1186/1750-1172-6-52〉
Liste complète des métadonnées

Littérature citée [52 références]  Voir  Masquer  Télécharger

http://www.hal.inserm.fr/inserm-00624798
Contributeur : Ed. Bmc <>
Soumis le : lundi 19 septembre 2011 - 17:40:33
Dernière modification le : mardi 10 avril 2018 - 12:34:01
Document(s) archivé(s) le : jeudi 30 mars 2017 - 15:25:42

Fichiers

Identifiants

Collections

Citation

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〉

Partager

Métriques

Consultations de la notice

417

Téléchargements de fichiers

232