title: HCP5 genetic variant (RS3099844) contributes to Nevirapine-induced Stevens Johnsons Syndrome/Toxic Epidermal Necrolysis susceptibility in a population from Mozambique.
abstract: OBJECTIVE
  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.
authors: Department of Biomedicine and Prevention, School of Medicine, University of Rome "Tor Vergata", Rome, Italy, borgiani@uniroma2.it.
authors: Paola
authors: P
authors: Borgiani
authors: Davide
authors: D
authors: Di Fusco
authors: Fulvio
authors: F
authors: Erba
authors: Maria C
authors: MC
authors: Marazzi
authors: Sandro
authors: S
authors: Mancinelli
authors: Giuseppe
authors: G
authors: Novelli
authors: Leonardo
authors: L
authors: Palombi
authors: Cinzia
authors: C
authors: Ciccacci
mesh_terms: D000483:Alleles; D019380:Anti-HIV Agents / Q000009:adverse effects*; D016022:Case-Control Studies; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D016014:Linear Models; D008285:Major Histocompatibility Complex / Q000235:genetics*; D009073:Mozambique; D019829:Nevirapine / Q000009:adverse effects*; D020641:Polymorphism, Single Nucleotide; D062085:RNA, Long Noncoding; D022661:RNA, Untranslated; D012044:Regression Analysis; D012189:Retrospective Studies; D013262:Stevens-Johnson Syndrome / Q000209:etiology* / Q000235:genetics
chemical_list: D019380:Anti-HIV Agents; C080521:HCP5 long noncoding RNA, human; D062085:RNA, Long Noncoding; D022661:RNA, Untranslated; D019829:Nevirapine