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TheHCP5Single‐Nucleotide Polymorphism: A Simple Screening Tool for Prediction of Hypersensitivity Reaction to Abacavir
Author(s) -
Sara Colombo,
Andri Rauch,
Margalida Rotger,
Jacques Fellay,
Raquel Martínez,
Christoph A. Fux,
Christine Thurnheer,
Huldrych F. Günthard,
David B. Goldstein,
Hansjakob Furrer,
Amalio Telenti
Publication year - 2008
Publication title -
the journal of infectious diseases
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.69
H-Index - 252
eISSN - 1537-6613
pISSN - 0022-1899
DOI - 10.1086/591184
Subject(s) - abacavir , genotyping , biology , single nucleotide polymorphism , typing , snp , genetics , linkage disequilibrium , hla b antigens , human leukocyte antigen , allele , snp genotyping , genotype , viral load , virus , antigen , antiretroviral therapy , gene
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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