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Orphanet Journal of Rare Diseases
Published in: Orphanet Journal of Rare Diseases 1/2011

Open Access 01-12-2011 | Research

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

Authors: Emmanuelle Génin, Martin Schumacher, Jean-Claude Roujeau, Luigi Naldi, Yvonne Liss, Rémi Kazma, Peggy Sekula, Alain Hovnanian, Maja Mockenhaupt

Published in: Orphanet Journal of Rare Diseases | Issue 1/2011

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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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Metadata
Title
Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe
Authors
Emmanuelle Génin
Martin Schumacher
Jean-Claude Roujeau
Luigi Naldi
Yvonne Liss
Rémi Kazma
Peggy Sekula
Alain Hovnanian
Maja Mockenhaupt
Publication date
01-12-2011
Publisher
BioMed Central
Published in
Orphanet Journal of Rare Diseases / Issue 1/2011
Electronic ISSN: 1750-1172
DOI
https://doi.org/10.1186/1750-1172-6-52

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