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 events in the cases selected.

Genome-wide association study of serious blistering skin rash caused by drugs / Shen Y; Nicoletti P; Floratos A; Pirmohamed M; Molokhia M; Geppetti P; Benemei S; Giomi B; Schena D; Vultaggio A; Stern R; Daly MJ; John S; Nelson MR; Pe'er I.. - In: PHARMACOGENOMICS JOURNAL. - ISSN 1470-269X. - ELETTRONICO. - 12:(2011), pp. 96-104. [10.1038/tpj.2010.84]

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

NICOLETTI, PAOLA;GEPPETTI, PIERANGELO;BENEMEI, SILVIA;GIOMI, BARBARA;
2011

Abstract

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 events in the cases selected.
2011
12
96
104
Shen Y; Nicoletti P; Floratos A; Pirmohamed M; Molokhia M; Geppetti P; Benemei S; Giomi B; Schena D; Vultaggio A; Stern R; Daly MJ; John S; Nelson MR; Pe'er I.
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Utilizza questo identificatore per citare o creare un link a questa risorsa: https://hdl.handle.net/2158/406355
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