Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/121182
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Type: Journal article
Title: 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
Author: Somogyi, A.A.
Barratt, D.T.
Phillips, E.J.
Moore, K.
Ilyas, F.
Gabb, G.M.
Citation: British Journal of Clinical Pharmacology, 2019; 85(9):2163-2169
Publisher: Wiley
Issue Date: 2019
ISSN: 0306-5251
1365-2125
Statement of
Responsibility: 
Andrew A. Somogyi, Daniel T. Barratt, Elizabeth J. Phillips, Kylies Moore, Fahmida Ilyas, Genevieve M. Gabb
Abstract: 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.
Keywords: drug reaction with eosinophilia and systemic symptoms; drug toxicity; human leucocyte antigen; indigenous Australians; phenytoin
Rights: © 2019 The British Pharmacological Society.
RMID: 0030118102
DOI: 10.1111/bcp.14025
Grant ID: http://purl.org/au-research/grants/nhmrc/108798
Appears in Collections:Medicine publications

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