Annotation of HLA-B*48:01

HLA-B *48:01 is associated with Drug Hypersensitivity and drug reaction with eosinophilia and systemic symptoms when treated with allopurinol or carbamazepine in people with severe cutaneous adverse reactions.

The frequency of the *4801 allele amoungst patients with DIHS/DRESS was higher compared to the frequency reported for the general population (4.3%) but was not statistically significant after correction for multiple comparisons.

From Publication

HLA-B allele associations with certain drugs are not confirmed in Japanese patients with severe cutaneous drug reactions. Acta dermato-venereologica. 2008. Kano Yoko et al.
PMID:19002350(opens in new window) DOI:10.2340/00015555-0528(opens in new window)

Gene

HLA-B

Haplotype

HLA-B*48:01

Phenotype Category

Toxicity

Association Significance

The study reports this association is not significant

PharmGKB ID

1184746938

Score
More info on scoring

0.25

Evidence for Clinical Annotations

This annotation has been used as evidence for the following clinical annotations.

    Study Parameters

    Study type

    Study size

    22 (cases=6; controls=16)

    Biogeographical group
    More info on groups

    East Asian

    Population description

    Study Cohort: A cohort of n= 21 patients with TEN or DIHS/DRESS or SJS induced by: n=3 allopurinol, n=10 carbamazepine, n=3 phenobarbital, n=1 phenytoin, n=4 other or unknown drug. 6 out of 16 patients with DIHS/DRESS had the HLA-B*4801 allele (n=4 carbamazepine-induced, n=2 allopurinol-induced).

    Note: Alleles in PharmGKB are mapped to the positive chromosomal strand. Therefore, variants in genes on the "minus" strand (eg. VKORC1) are complemented in PharmGKB annotations.

    History

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