Genetic Study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe
Author Information
Author(s): Emmanuelle Génin, Martin Schumacher, Jean-Claude Roujeau, Luigi Naldi, Yvonne Liss, Rémi Kazma, Peggy Sekula, Alain Hovnanian, Maja Mockenhaupt
Primary Institution: Inserm U946, Paris, France
Hypothesis
To investigate genetic association at a genome-wide level on a large sample of SJS/TEN patients.
Conclusion
The study confirms the involvement of genetic variants in the HLA region in SJS/TEN among European patients, particularly with allopurinol exposure.
Supporting Evidence
- Six SNPs in the HLA region showed significant association with SJS/TEN.
- The haplotype associated with the disease was stronger in patients exposed to allopurinol.
- The study is the largest collection of SJS/TEN patients to date.
Takeaway
This study looked at the genes of people with a serious skin reaction to drugs and found that certain genes are linked to this condition, especially in those who took a specific medicine called allopurinol.
Methodology
A genome-wide association study was performed on 424 SJS/TEN patients and 1,881 controls, using SNP genotyping and statistical analysis to identify associations.
Potential Biases
Potential bias due to the selection of controls primarily from France and Germany.
Limitations
The study may have missed some genetic variants with important effects, especially those with low frequencies.
Participant Demographics
The sample included 226 males and 337 females, with a majority from France and Germany.
Statistical Information
P-Value
0.019
Confidence Interval
[4.66; 12.98]
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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