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The most recent version of this article was published on 1 July 2007

Br J Ophthalmol. Published Online First: 21 February 2007. doi:10.1136/bjo.2006.113449
Copyright © 2007 by the BMJ Publishing Group Ltd.
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Laboratory science - Extended reports

Toll like receptor 3 gene polymorphisms in Japanese patients with Stevens-Johnson syndrome

Mayumi Ueta 1*, Chie Sotozono 1, Tsutomu Inatomi 1, Kentaro Kojima 1, Kei Tashiro 1, Junji Hamuro 1 and Shigeru Kinoshita 1

1 Kyoto Prefectural University of Medicine, Japan

* To whom correspondence should be addressed. E-mail: mueta{at}ophth.kpu-m.ac.jp.

Accepted 3 February 2007


*  Abstract

Background: Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are acute-onset mucocutaneous diseases induced by infectious agents and/or inciting drugs. Given the association between the onset of SJS/TEN and infections, we considered the possibility that there is an association between SJS/TEN and a disordered innate immune response. The first line of defense against infection is comprised of evolutionarily conserved sets of molecules, the Toll like receptors (TLRs). TLR3 recognizes double-stranded (ds) RNA associated with viral infections.

Methods: The Japanese Single Nucleotide Polymorphisms (JSNP) database reports 7 polymorphisms consisting of 7 SNPs in the human TLR3 gene; 3 of the 7 SNPs are coded in exon regions, i.e. 293248A/G, 293391A/G, and 299698T/G, the other 4 are coded in intron regions, i.e. 294440G/C, 294732C/T, 208036T/C, and 298054C/T. We analyzed these 7 SNPs in 57 Japanese SJS/TEN patients with ocular surface complications and 160 Japanese healthy controls.

Results: We found that SNP 299698T/G and the genotype pattern of 293248A/A and 299698T/T strongly associated with SJS/TEN.

Conclusion: Our results suggest that polymorphisms in the TLR3 gene may be associated with SJS/TEN in the Japanese population.

Keywords: Ocular surface complications, Polymorphisms, Stevens-Johnson syndrome (SJS), TLR3, Toxic epidermal necrolysis (TEN)




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