HCP5 rs2395029 is a rapid and inexpensive alternative to HLA-B*57:01 genotyping to predict abacavir hypersensitivity reaction in Spain.
Alleles
Anti-HIV Agents
/ administration & dosage
DNA Copy Number Variations
/ genetics
Dideoxynucleosides
/ administration & dosage
Drug Hypersensitivity
/ genetics
Genotype
HIV Infections
/ drug therapy
HLA-B Antigens
/ genetics
Humans
Linkage Disequilibrium
/ genetics
Polymorphism, Single Nucleotide
/ genetics
RNA, Long Noncoding
/ genetics
Journal
Pharmacogenetics and genomics
ISSN: 1744-6880
Titre abrégé: Pharmacogenet Genomics
Pays: United States
ID NLM: 101231005
Informations de publication
Date de publication:
01 04 2021
01 04 2021
Historique:
pubmed:
13
10
2020
medline:
3
9
2021
entrez:
12
10
2020
Statut:
ppublish
Résumé
Abacavir (ABC) is an HIV nucleotide-analogue reverse transcriptase inhibitor that can produce a severe hypersensitivity reaction (ABC-HSR) in about 5% of the patients. The HLA-B*57:01 allele is associated with the development of ABC-HSR. Therefore, HLA-B*57:01 genotyping is required prior to the prescription of ABC. The technique routinely used in our laboratory is the sequence-specific oligonucleotide probes (SSOP) reverse hybridization method followed by Sanger sequencing. This technique is time-consuming and expensive. The single-nucleotide polymorphism (SNP) HCP5 rs2395029 was described to be in complete linkage disequilibrium with HLA-B*57:01. In this study, we aimed to assess the linkage disequilibrium between HCP5 rs2395029 and HLA-B*57:01 in patients receiving medical assistance at our hospital. We selected 226 HIV-infected patients from our hospital who had been routinely genotyped since 2009 with the SSOP and Sanger sequencing method: 49 HLA-B*57:01 positives and 177 negatives. We genotyped them for HCP5 rs2395019 by real time PCR (qPCR). We exploratory performed two copy number variation assays flanking HCP5 rs2395019 to explore possible deletions that could break the linkage disequilibrium with HLA-B*57:01. The concordance between HLA-B*57:01 and the HCP5 rs2395029 G allele was absolute, with a specificity and sensitivity of 100% (95% confidence interval: 93.0-100.0% and 98.0-100.0%, respectively) and estimated positive and negative predictive values of 84.4% (48.1-93.9%) and 99.9% (99.4-100.0%), respectively. No deletions were found at HCP5 flanking regions. The duration and cost of the SSOP-based method was considerably higher than the SNP-based method. Therefore, the HCP5 rs2395029 genotyping method may be alternatively used in the clinical practice.
Identifiants
pubmed: 33044391
pii: 01213011-202104000-00001
doi: 10.1097/FPC.0000000000000421
doi:
Substances chimiques
Anti-HIV Agents
0
Dideoxynucleosides
0
HCP5 long noncoding RNA, human
0
HLA-B Antigens
0
HLA-B*57:01 antigen
0
RNA, Long Noncoding
0
abacavir
WR2TIP26VS
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
53-59Informations de copyright
Copyright © 2020 Wolters Kluwer Health, Inc. All rights reserved.
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