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Laboratory science - Extended reports
Toll-like receptor 3 gene polymorphisms in Japanese patients with Stevens–Johnson syndrome
  1. Mayumi Ueta1,
  2. Chie Sotozono1,
  3. Tsutomu Inatomi1,
  4. Kentaro Kojima1,
  5. Kei Tashiro2,
  6. Junji Hamuro1,
  7. Shigeru Kinoshita1
  1. 1Department of Ophthalmology, Kyoto Prefectural University of Medicine, Kyoto, Japan
  2. 2Department of Genomic Medical Sciences, Kyoto Prefectural University of Medicine, Kyoto, Japan
  1. Correspondence to: Dr M Ueta Department of Ophthalmology, Kyoto Prefectural University of Medicine, 465 Kajiicho, Hirokoji, Kawaramachi, Kamigyoku, Kyoto 602-0841, Japan;mueta{at}ophth.kpu-m.ac.jp

Abstract

Background and aim: 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, the possibility that there is an association between SJS/TEN and a disordered innate immune response was considered. The first line of defence against infection is comprised of evolutionarily conserved sets of molecules, the Toll–like receptors (TLRs). TLR3 recognises double-stranded RNA associated with viral infections.

Methods: The Japanese single-nucleotide-polymorphism (JSNP) database reports 7 polymorphisms consisting of 7 SNPs in the human TLR3 gene; 3 of the 7 SNPs are coded in exon regions, (ie, 293248A/G, 293391A/G and 299698T/G), and the other 4 are coded in intron regions, (ie, 294440G/C, 294732C/T, 208036T/C and 298054C/T). These 7 SNPs were analysed in 57 Japanese patients with SJS/TEN with ocular surface complications and in 160 Japanese healthy controls.

Results: SNP 299698T/G and the genotype patterns of 293248A/A and 299698T/T were strongly associated with SJS/TEN.

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

  • ds RNAs, double stranded RNAs
  • RV, rhinovirus
  • SJS, Stevens–Johnson syndrome
  • SNP, single-nucleotide polymorphism
  • TEN, toxic epidermal necrolysis
  • TLR3, Toll-like receptor 3

https://doi.org/10.1136/bjo.2006.113449

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    Footnotes

    • Published Online First 21 February 2007

    • Competing interests: None declared.