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Genome-wide association study of serious blistering skin rash caused by drugs

By Pe'er I Nelson MR John S Daly MJ Stern R Vultaggio A Schena D Giomi B Benemei S Geppetti P Molokhia M Pirmohamed M Floratos A Nicoletti P Shen Y and International Serious Adverse Events Consortium (SAEC).


Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are rare but severe, potentially life threatening adverse drug reactions characterized by skin blistering. Previous studies have identified drug-specific and population-specific genetic risk factors with large effects. In this study, we report the first genome-wide association study (GWAS) of SJS/TEN induced by a variety of drugs. Our aim was to identify common genetic risk factors with large effects on SJS/TEN risk. We conducted a genome-wide analysis of 96 retrospective cases and 198 controls with a panel of over one million single-nucleotide polymorphisms (SNPs). We further improved power with about 4000 additional controls from publicly available datasets. No genome-wide significant associations with SNPs or copy number variants were observed, although several genomic regions were suggested that may have a role in predisposing to drug-induced SJS/TEN. Our GWAS did not find common, highly penetrant genetic risk factors responsible for SJS/TEN e

Topics: Stevens-Johnson syndrome (SJS), toxic epidermal necrolysis (TEN), genome-wide association study (GWAS)
Year: 2012
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