Medical genetics: a marker for Stevens-Johnson syndrome.

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Chung WH, Hung SI, Hong HS, Hsih MS, Yang LC, Ho HC, Wu JY, Chen YT

Medical genetics: a marker for Stevens-Johnson syndrome.

Nature. 2004 Apr 1;428(6982):486.

PubMed ID

15057820 [ View in PubMed

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Abstract

Stevens-Johnson syndrome and the related disease toxic epidermal necrolysis are life-threatening reactions of the skin to particular types of medication. Here we show that there is a strong association in Han Chinese between a genetic marker, the human leukocyte antigen HLA-B*1502, and Stevens-Johnson syndrome induced by carbamazepine, a drug commonly prescribed for the treatment of seizures. It should be possible to exploit this association in a highly reliable test to predict severe adverse reaction, as well as for investigation of the pathogenesis of Stevens-Johnson syndrome.

DrugBank Data that Cites this Article

Pharmaco-genomics

Drug	Interacting Gene/Enzyme	Allele name	Genotypes	Defining change(s)	Type(s)	Description	Details
Carbamazepine	Flotillin-1 Gene symbol: FLOT1 UniProt: O75955	HLA-B*1502	(G;G) / (C;G)	G > C (rs3909184) G > C (rs3909184)	ADR Directly Studied	Taiwanese, Chinese, Indians, and Chinese–American patients with this genotype have increased risk of Stevens-Johnson syndrome or toxic epidermal necrolysis with carbamazepine.	Details
Carbamazepine	Mucin-21 Gene symbol: MUC21 UniProt: Q5SSG8	HLA-B*1502	(G;G) / (A;G)	G>A (rs2844682) G>A (rs2844682)	ADR Directly Studied	Taiwanese, Chinese, Indians, and Chinese–American patients with this genotype have increased risk of Stevens-Johnson syndrome or toxic epidermal necrolysis with carbamazepine.	Details