HCP5 genetic variant (RS3099844) contributes to Nevirapine-induced Stevens Johnsons Syndrome/Toxic Epidermal Necrolysis susceptibility in a population from Mozambique

Paola Borgiani, Davide Di Fusco, Fulvio Erba, Maria C. Marazzi, Sandro Mancinelli, Giuseppe Novelli, Leonardo Palombi, Cinzia Ciccacci

Research output: Contribution to journalArticle

Abstract

Purpose: Nevirapine (NVP) is an anti-retroviral drug used for the treatment of HIV infection, that may cause several severe adverse events, including Stevens Johnsons Syndrome/Toxic Epidermal Necrolysis (SJS/TEN). A recent whole genome association study highlighted a strong association with allopurinol-induced SJS/TEN within the HCP5 and PSORS1C1 genes in the Japanese population. Our aim was to verify the contribution of these two genes in the susceptibility to NVP-induced SJS/TEN in a population from Mozambique. Methods: Genotyping of PSORS1C1 rs2233945 and HCP5 rs3099844 SNPs was performed in a sample of 27 patients with SJS/TEN and 76 controls. A case-control and a haplotype analysis were performed. Results: The HCP5 rs3099844 variant allele was significantly associated with the SJS/TEN susceptibility (OR = 2.03 and P = 0.039). The TA haplotype, carrying both the variant alleles of the two genes, showed a higher risk for developing SJS/TEN (OR = 3.44and P = 0.003). The regression analysis confirmed the contribution of HCP5 rs3099844 SNP (OR = 2.05, P = 0.047). By a log-linear model, we also investigated for interaction between HCP5 rs309844 and PSORS1C1 rs2233945 SNPs with respect to SJS/TEN risk, and we observed a strong interaction between the two SNPs (P = 0.005). Conclusions: We confirmed the association of HCP5 with the SJS/TEN susceptibility in a population from Mozambique treated with NVP.

Original languageEnglish
Pages (from-to)275-278
Number of pages4
JournalEuropean Journal of Clinical Pharmacology
Volume70
Issue number3
DOIs
Publication statusPublished - Mar 2014

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Keywords

  • HCP5 gene
  • Polymorphisms
  • PSORS1C1 gene
  • Stevens Johnson Syndrome (SJS)
  • Susceptibility
  • Toxic epidermal necrolysis (TEN)

ASJC Scopus subject areas

  • Pharmacology (medical)
  • Pharmacology

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