The HCP5 Single-Nucleotide Polymorphism: A Simple Screening Tool for Prediction of Hypersensitivity Reaction to Abacavir

Colombo, Sara ; Rauch, Andri ; Rotger, Margalida ; Fellay, Jacques ; Martinez, Raquel ; Fux, Christoph ; Thurnheer, Christine ; Günthard, Huldrych F. ; Goldstein, David B. ; Furrer, Hansjakob ; Telenti, Amalio

In: The Journal of Infectious Diseases, 2008, vol. 198, no. 6, p. 864-867

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    Summary
    The HLA-B*5701 allele is predictive of hypersensitivity reaction to abacavir, a response herein termed "ABC-HSR.” This study of 1103 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 HCP5SNP 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