Screening of single nucleotide polymorphisms within HLA region related to hematopoietic stem cell transplantation using MassARRAY technology

A growing number of studies showed that single nucleotide polymorphisms (SNPs) in the human leukocyte antigen (HLA)-related genes were associated with the outcome of hematopoietic stem cell transplantation (HSCT). Thus, other SNPs located nearby the classical HLA genes must be considered in HSCT. We...

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Bibliographic Details
Published in:Scientific reports 2023-04, Vol.13 (1), p.5913-5913, Article 5913
Main Authors: Tsai, Shu-Hui, Chang, Pi-Yueh, Wen, Ying-Hao, Lin, Wei-Tzu, Hsu, Fang-Ping, Chen, Ding-Ping
Format: Article
Language:English
Subjects:
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631/337
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Genotype
Genotyping
Hematopoietic Stem Cell Transplantation - methods
Hematopoietic stem cells
Histocompatibility antigen HLA
HLA Antigens - genetics
Humanities and Social Sciences
Humans
Mass spectrometry
Mass spectroscopy
multidisciplinary
Polymorphism, Single Nucleotide
Science
Science (multidisciplinary)
Single-nucleotide polymorphism
Stem cell transplantation
Stem cells
Transplantation
Transplantation, Homologous - methods
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Summary:A growing number of studies showed that single nucleotide polymorphisms (SNPs) in the human leukocyte antigen (HLA)-related genes were associated with the outcome of hematopoietic stem cell transplantation (HSCT). Thus, other SNPs located nearby the classical HLA genes must be considered in HSCT. We evaluated the clinical feasibility of MassARRAY by comparing to Sanger sequencing. The PCR amplicons with each one of the 17 loci that were related to the outcomes of HSCT published by our previous study were transferred onto a SpectroCHIP Array for genotyping by mass spectrometry. The sensitivity of MassARRAY was 97.9% (614/627) and the specificity was 100% (1281/1281), where the positive predictive value (PPV) was 100% (614/614) and the negative predictive value (NPV) was 99.0% (1281/1294). MassARRAY is high-throughput, which can accurately analyze multiple SNPs at the same time. Based on these properties, we proposed that it could be an efficient method to match the genotype between the graft and the recipient before transplantation.
ISSN:2045-2322
2045-2322
DOI:10.1038/s41598-023-33149-4