title: Stevens-Johnson syndrome and toxic epidermal necrolysis: an update on pharmacogenetics studies in drug-induced severe skin reaction.
abstract: Stevens-Johnson syndrome and toxic epidermal necrolysis are severe, life-threatening drug reactions involving skin and membranes mucous, which are associated with significant morbidity and mortality and triggered, especially by drug exposure. Different studies have demonstrated that drug response is a multifactorial character and that the interindividual variability in this response depends on both environmental and genetic factors. The last ones have a relevant significance. In fact, the identification of new specific genetic markers involved in the response to drugs, will be of great utility to establish a more personalized therapeutic approach and to prevent the appearance of these adverse reactions. In this review, we summarize recent progresses in the Pharmacogenetics studies related to Stevens-Johnson syndrome/toxic epidermal necrolysis reporting the major genetic factors identified in the last years as associated with the disease and highlighting the use of some of these genomic variants in the clinical practice.
authors.affiliation: Department of Biomedicine & Prevention, Genetics Unit, University of Rome "Tor Vergata", Italy.
authors.forename: Sara
authors.initials: S
authors.lastname: Rufini
authors.affiliation: Department of Biomedicine & Prevention, Genetics Unit, University of Rome "Tor Vergata", Italy.
authors.forename: Cinzia
authors.initials: C
authors.lastname: Ciccacci
authors.affiliation: Department of Biomedicine & Prevention, Genetics Unit, University of Rome "Tor Vergata", Italy.
authors.forename: Cristina
authors.initials: C
authors.lastname: Politi
authors.affiliation: Department of Biomedicine & Prevention, Genetics Unit, University of Rome "Tor Vergata", Italy.|Laboratory of Molecular Genetics UILDM, Fondazione Santa Lucia, Rome, Italy.
authors.forename: Emiliano
authors.initials: E
authors.lastname: Giardina
authors.affiliation: Department of Biomedicine & Prevention, Genetics Unit, University of Rome "Tor Vergata", Italy.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Novelli
authors.affiliation: Department of Biomedicine & Prevention, Genetics Unit, University of Rome "Tor Vergata", Italy.
authors.forename: Paola
authors.initials: P
authors.lastname: Borgiani
mesh_terms: D000493:Allopurinol / Q000009:adverse effects; D000818:Animals; D064420:Drug-Related Side Effects and Adverse Reactions / Q000175:diagnosis / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D010597:Pharmacogenetics / Q000379:methods* / Q000639:trends; D012720:Severity of Illness Index; D013262:Stevens-Johnson Syndrome / Q000175:diagnosis / Q000235:genetics*
chemical_list: D000493:Allopurinol
keywords: SJS/TEN; allopurinol; carbamazepine; genomic biomarkers; nevirapine; pharmacogenetics; polymorphisms