Genome-wide association study of serious blistering skin rash caused by drugs
Autor: | Susan D. John, Silvia Benemei, B Giomi, A Vultaggio, Munir Pirmohamed, Pierangelo Geppetti, Aris Floratos, Mj Daly, Donatella Schena, Mariam Molokhia, Robert S. Stern, Nelson, Paola Nicoletti, Itsik Pe'er, Yufeng Shen |
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Rok vydání: | 2011 |
Předmět: |
Male
medicine.medical_specialty Blistering skin Single-nucleotide polymorphism Genome-wide association study Cohort Studies Genetics Medicine Humans Copy-number variation Drug reaction Genetic risk Retrospective Studies Pharmacology Principal Component Analysis business.industry medicine.disease Dermatology Rash Toxic epidermal necrolysis stomatognathic diseases Case-Control Studies Stevens-Johnson Syndrome Molecular Medicine Female medicine.symptom business Genome-Wide Association Study |
Zdroj: | The pharmacogenomics journal. 12(2) |
ISSN: | 1473-1150 |
Popis: | 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. |
Databáze: | OpenAIRE |
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