High and variable population prevalence of HLA-B*56:02 in indigenous Australians and relation to phenytoin-associated drug reaction with eosinophilia and systemic symptoms.

Somogyi AA, Barratt DT, Phillips EJ, Moore K, Ilyas F, Gabb GM
Br J Clin Pharmacol. 2019 85 (9): 2163-2169

PMID: 31206740 · PMCID: PMC6710506 · DOI:10.1111/bcp.14025

Phenytoin drug reaction with eosinophilia and systemic symptoms (DRESS) in 3 Aboriginal Australians positive for HLA-B*56:02 has been previously reported. We report the allele frequency of HLA-B*56:02 in 2 South Australian populations, 1 Aboriginal (4.8%, 95% confidence interval 2.4-7.8%) and the other European (0%). We compared the frequency with publicly available information on HLA-B*56:02 status in other Indigenous Australian (n = 4) and European Australian cohorts (n = 1). In the Indigenous Australian cohorts, HLA-B*56:02 allele frequency ranged from 1.3 to 19%. We also describe an additional case of phenytoin DRESS (RegiSCAR DRESS score 7) in an Aboriginal Australian that was associated with HLA-B*56:02 and with CYP2C9*1/*3 genotype. In Aboriginal Australians, phenytoin DRESS appears distinctly linked to HLA-B*56:02 with an allele carriage rate substantially higher than in Europeans, but also with considerable regional variation. Investigations of human leucocyte antigen and other contributing genes and severe adverse drug reactions in understudied non-European populations are required to optimize safe medication use and inform risk mitigation strategies.

© 2019 The British Pharmacological Society.

MeSH Terms (19)

Adolescent Adult Aged Australia Biological Variation, Population Cohort Studies Cytochrome P-450 CYP2C9 Drug Hypersensitivity Syndrome Female Gene Frequency Genetic Predisposition to Disease Genotyping Techniques HLA-B Antigens Humans Indigenous Peoples Male Middle Aged Phenytoin Young Adult

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