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

Y. Shen; P. Nicoletti; A. Floratos; M. Pirmohamed; Mariam Molokhia; P. Geppetti; S. Benemei; B. Giomi; D. Schena; A. Vultaggio; Rowena Stern; M. J. Daly; Susan John; Michael Nelson; I. Pe'er; Int Serious Adverse Events

doi:10.1038/tpj.2010.84

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

Y. Shen, P. Nicoletti, A. Floratos, M. Pirmohamed, Mariam Molokhia, P. Geppetti, S. Benemei, B. Giomi, D. Schena, A. Vultaggio, Rowena Stern, M. J. Daly, Susan John, Michael Nelson, I. Pe'er, Int Serious Adverse Events

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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. The Pharmacogenomics Journal (2012) 12, 96-104; doi: 10.1038/tpj.2010.84; published online 11 January 2011

Original language	English
Pages (from-to)	96-104
Number of pages	9
Journal	PHARMACOGENOMICS JOURNAL
Volume	12
Issue number	2
Early online date	11 Jan 2011
DOIs	https://doi.org/10.1038/tpj.2010.84
Publication status	Published - Apr 2012

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Shen, Y., Nicoletti, P., Floratos, A., Pirmohamed, M., Molokhia, M., Geppetti, P., Benemei, S., Giomi, B., Schena, D., Vultaggio, A., Stern, R., Daly, M. J., John, S., Nelson, M., Pe'er, I., & Int Serious Adverse Events (2012). Genome-wide association study of serious blistering skin rash caused by drugs. PHARMACOGENOMICS JOURNAL, 12(2), 96-104. https://doi.org/10.1038/tpj.2010.84

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title = "Genome-wide association study of serious blistering skin rash caused by drugs",

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. The Pharmacogenomics Journal (2012) 12, 96-104; doi: 10.1038/tpj.2010.84; published online 11 January 2011",

author = "Y. Shen and P. Nicoletti and A. Floratos and M. Pirmohamed and Mariam Molokhia and P. Geppetti and S. Benemei and B. Giomi and D. Schena and A. Vultaggio and Rowena Stern and Daly, {M. J.} and Susan John and Michael Nelson and I. Pe'er and {Int Serious Adverse Events}",

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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, M, Pe'er, I & Int Serious Adverse Events 2012, 'Genome-wide association study of serious blistering skin rash caused by drugs', PHARMACOGENOMICS JOURNAL, vol. 12, no. 2, pp. 96-104. https://doi.org/10.1038/tpj.2010.84

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AU - Shen, Y.

AU - Nicoletti, P.

AU - Floratos, A.

AU - Pirmohamed, M.

AU - Molokhia, Mariam

AU - Geppetti, P.

AU - Benemei, S.

AU - Giomi, B.

AU - Schena, D.

AU - Vultaggio, A.

AU - Stern, Rowena

AU - Daly, M. J.

AU - John, Susan

AU - Nelson, Michael

AU - Pe'er, I.

AU - Int Serious Adverse Events

PY - 2012/4

Y1 - 2012/4

N2 - 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. The Pharmacogenomics Journal (2012) 12, 96-104; doi: 10.1038/tpj.2010.84; published online 11 January 2011

AB - 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. The Pharmacogenomics Journal (2012) 12, 96-104; doi: 10.1038/tpj.2010.84; published online 11 January 2011

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DO - 10.1038/tpj.2010.84

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JO - PHARMACOGENOMICS JOURNAL

JF - PHARMACOGENOMICS JOURNAL

IS - 2

ER -

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

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