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Human Leukocyte Antigen (HLA) Testing in Pharmacogenomics

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Pharmacogenomics in Drug Discovery and Development

Part of the book series: Methods in Molecular Biology ((MIMB,volume 2547))

Abstract

The genetic region on the short arm of chromosome 6 where the human leukocyte antigen (HLA) genes are located is the major histocompatibility complex. The genes in this region are highly polymorphic, and some loci have a high degree of homology with other genes and pseudogenes. Histocompatibility testing has traditionally been performed in the setting of transplantation and involves determining which specific alleles are present. Several HLA alleles have been associated with disease risk or increased risk of adverse drug reaction (ADR) when treated with certain medications. Testing for these applications differs from traditional histocompatibility in that the desired result is simply presence or absence of the allele of interest, rather than determining which allele is present. At present, the majority of HLA typing is done by molecular methods using commercially available kits. A subset of pharmacogenomics laboratories has developed their own methods, and in some cases, query single nucleotide variants associated with certain HLA alleles rather than directly testing for the allele. In this chapter, a brief introduction to the HLA system is provided, followed by an overview of a variety of testing technologies including those specifically used in pharmacogenomics, and the chapter concludes with details regarding specific HLA alleles associated with ADR.

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Authors and Affiliations

  1. Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA

    Ann M. Moyer & Manish J. Gandhi

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  1. Ann M. Moyer
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  2. Manish J. Gandhi
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Correspondence to Ann M. Moyer .

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  1. PharmTao, Santa Clara, CA, USA

    Qing Yan

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Moyer, A.M., Gandhi, M.J. (2022). Human Leukocyte Antigen (HLA) Testing in Pharmacogenomics. In: Yan, Q. (eds) Pharmacogenomics in Drug Discovery and Development. Methods in Molecular Biology, vol 2547. Humana, New York, NY. https://doi.org/10.1007/978-1-0716-2573-6_2

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  • DOI: https://doi.org/10.1007/978-1-0716-2573-6_2

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