PMID- 36068459 OWN - NLM STAT- MEDLINE DCOM- 20220908 LR - 20231004 IS - 1940-6029 (Electronic) IS - 1064-3745 (Linking) VI - 2547 DP - 2022 TI - Human Leukocyte Antigen (HLA) Testing in Pharmacogenomics. PG - 21-45 LID - 10.1007/978-1-0716-2573-6_2 [doi] AB - 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. CI - (c) 2022. The Author(s), under exclusive license to Springer Science+Business Media, LLC, part of Springer Nature. FAU - Moyer, Ann M AU - Moyer AM AD - Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA. Moyer.Ann@mayo.edu. FAU - Gandhi, Manish J AU - Gandhi MJ AD - Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA. LA - eng PT - Journal Article PL - United States TA - Methods Mol Biol JT - Methods in molecular biology (Clifton, N.J.) JID - 9214969 RN - 0 (HLA Antigens) RN - 0 (Histocompatibility Antigens Class I) RN - 0 (Histocompatibility Antigens Class II) SB - IM MH - Alleles MH - *HLA Antigens/genetics MH - Histocompatibility Antigens Class I/genetics MH - Histocompatibility Antigens Class II/genetics MH - Histocompatibility Testing/methods MH - Humans MH - *Pharmacogenetics OTO - NOTNLM OT - HLA antigens OT - HLA typing OT - Hypersensitivity reactions OT - Immune-mediated adverse drug reaction OT - MHC OT - Pharmacogenetics OT - Pharmacogenomics EDAT- 2022/09/07 06:00 MHDA- 2022/09/09 06:00 CRDT- 2022/09/06 23:32 PHST- 2022/09/06 23:32 [entrez] PHST- 2022/09/07 06:00 [pubmed] PHST- 2022/09/09 06:00 [medline] AID - 10.1007/978-1-0716-2573-6_2 [doi] PST - ppublish SO - Methods Mol Biol. 2022;2547:21-45. doi: 10.1007/978-1-0716-2573-6_2.