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Int. J. Mol. Sci. 2015, 16(3), 5830-5838; doi:10.3390/ijms16035830

A Pharmacogenetics Study in Mozambican Patients Treated with Nevirapine: Full Resequencing of TRAF3IP2 Gene Shows a Novel Association with SJS/TEN Susceptibility

1
Department of Biomedicine and Prevention, Genetics Section, University of Rome “Tor Vergata”, Rome 00133, Italy
2
Department of Biomedicine and Prevention, Epidemiology Section, University of Rome “Tor Vergata”, Rome 00133, Italy
3
Laboratory of Molecular Genetics UILDM, Fondazione Santa Lucia, Rome 00179, Italy
4
Department of Human Sciences, LUMSA University, Rome 00193, Italy
*
Author to whom correspondence should be addressed.
Academic Editor: Sabrina Angelini
Received: 22 January 2015 / Revised: 6 March 2015 / Accepted: 7 March 2015 / Published: 12 March 2015
(This article belongs to the Special Issue Pharmacogenetics and Personalized Medicine)
View Full-Text   |   Download PDF [718 KB, uploaded 12 March 2015]   |  

Abstract

Steven–Johnson Syndrome (SJS) and Toxic Epidermal Necrolysis (TEN) are severe adverse drug reactions, characterized by extensive epidermal detachment and erosions of mucous membrane. SJS/TEN is one of the most serious adverse reactions to Nevirapine (NVP) treatment, commonly used in developing countries as first-line treatment of human immunodeficiency virus infection. In the last years TRAF3IP2 gene variants had been described as associated with susceptibility to several diseases such as psoriasis and psoriatic arthritis. We hypothesized that this gene, involved in immune response and in NF-κB activation, could also be implicated in the SJS/TEN susceptibility. We performed a full resequencing of TRAF3IP2 gene in a population of patients treated with NVP. Twenty-seven patients with NVP-induced SJS/TEN and 78 controls, all from Mozambique, were enrolled. We identified eight exonic and three intronic already described variants. The case/control association analysis highlighted an association between the rs76228616 SNP in exon 2 and the SJS/TEN susceptibility. In particular, the variant allele (C) resulted significantly associated with a higher risk to develop SJS/TEN (p = 0.012 and OR = 3.65 (95% CI 1.33–10.01)). A multivariate analysis by logistic regression confirmed its significant contribution (p = 0.027, OR = 4.39 (95% CI 1.19–16.23)). In conclusion, our study suggests that a variant in TRAF3IP2 gene could be involved in susceptibility to SJS/TEN. View Full-Text
Keywords: pharmacogenetics; polymorphisms; Steven–Johnson Syndrome (SJS); Toxic Epidermal Necrolysis (TEN); TRAF3IP2 gene pharmacogenetics; polymorphisms; Steven–Johnson Syndrome (SJS); Toxic Epidermal Necrolysis (TEN); TRAF3IP2 gene
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).

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MDPI and ACS Style

Ciccacci, C.; Rufini, S.; Mancinelli, S.; Buonomo, E.; Giardina, E.; Scarcella, P.; Marazzi, M.C.; Novelli, G.; Palombi, L.; Borgiani, P. A Pharmacogenetics Study in Mozambican Patients Treated with Nevirapine: Full Resequencing of TRAF3IP2 Gene Shows a Novel Association with SJS/TEN Susceptibility. Int. J. Mol. Sci. 2015, 16, 5830-5838.

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