The Journal of Infectious Diseases · 2008 · 95 citations · 11 references
Life SciencesGeneticsMolecular GeneticsHuman GeneticsHypersensitivityImmunogeneticsDisease Susceptibility LociGenetic Risk PredictionGenetic SusceptibilityHla TypingMajor Histocompatibility ComplexPopulation ImmunogeneticsHla AllelesLinkage Disequilibrium AnalysisLinkage Disequilibrium PatternsSequence-based Hla TypingSequence-based TypingSingle Nucleotide Polymorphism ScreeningSingle-nucleotide Polymorphism AnalysisSingle-nucleotide Polymorphism Variation
The HLA-B 5701 allele is predictive of hypersensitivity reaction to abacavir, a response herein termed "ABC-HSR." This study of 1,103 individuals infected with human immunodeficiency virus assessed the usefulness of genotyping a HCP5 single-nucleotide polymorphism (SNP), rs2395029, in relation to ABC-HSR. In populations with European ancestry, rs2395029 is in linkage disequilibrium with HLA-B 5701. The HCP5 SNP was present in all 98 HLA-B 5701-positive individuals and was absent in 999 of 1005 HLA-B 5701-negative individuals. rs2395029 was overrepresented in 25 individuals with clinically likely ABC-HSR, compared with its frequency in 175 ABC-tolerant individuals (80% vs. 2%, respectively; P < .0001). Therefore, HCP5 genotyping could serve as a simple screening tool for ABC-HSR, particularly in settings where sequence-based HLA typing is not available.
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HLA-B*5701 Screening for Hypersensitivity to Abacavir
S. Mallal, Elizabeth J. Phillips, Giampiero Carosi et al. · New England Journal of Medicine · 2008 · 1.8K citations · Full text
A Whole-Genome Association Study of Major Determinants for Host Control of HIV-1
Jacques Fellay, Kevin V. Shianna, Dongliang Ge et al. · Science · 2007 · 1.2K citations · Full text
Genetic variations in HLA-B region and hypersensitivity reactions to abacavir
Seth Hetherington, Arlene R. Hughes, Michael Mosteller et al. · The Lancet · 2002 · 812 citations