Clinical utility of next generation sequencing based HLA typing for disease association and pharmacogenetic testing
| Autor: | Ann Pole, Cassandra Monds, Tracie Profaizer, Eszter Lazar-Molnar, Julio C. Delgado |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
Genotype Genotyping Techniques Immunology Disease Computational biology Human leukocyte antigen DNA sequencing Melting curve analysis Drug Hypersensitivity 03 medical and health sciences 0302 clinical medicine HLA-DQ Antigens Humans Immunology and Allergy Medicine Spondylitis Ankylosing Allele Genotyping Alleles Narcolepsy business.industry Histocompatibility Testing High-Throughput Nucleotide Sequencing Sequence Analysis DNA General Medicine Pharmacogenomic Testing Transplantation Celiac Disease 030104 developmental biology HLA-B Antigens Feasibility Studies business Pharmacogenetics 030215 immunology |
| Zdroj: | Human Immunology. 81:354-360 |
| ISSN: | 0198-8859 |
| Popis: | HLA associations have been linked to many diseases and are important for risk assessment of drug hypersensitivity reactions. The increasing number of HLA alleles discovered generated a list of ambiguities that cannot be resolved with the current clinical assays, which commonly include sequence-specific oligonucleotide probe (SSOP) genotyping, and real-time PCR with melting curve analysis. HLA typing by next-generation sequencing (NGS) has recently been adopted by clinical laboratories for transplantation testing, as it provides unambiguous and cost-effective HLA typing. The goal of this study was to evaluate the feasibility of using NGS-based HLA-B and DQ genotyping for clinical HLA disease association testing, and provide direct comparison with the currently used clinical tests, including SSOP genotyping, and real-time PCR with melting curve analysis. While the real-time PCR method is easy and inexpensive to perform, ambiguities are rapidly increasing as more and more HLA alleles are discovered. SSOP genotyping identifies the alleles present but limitations include ambiguities and underreporting less common alleles. Our data show that HLA typing by NGS is superior to the existing clinical methods for identifying HLA alleles associated with disease or drug hypersensitivity, and offers a viable approach for high volume clinical diagnostic laboratories. |
| Databáze: | OpenAIRE |
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