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Toll like receptor 3 gene polymorphisms in Japanese patients with Stevens-Johnson syndrome
  1. Mayumi Ueta (mueta{at}ophth.kpu-m.ac.jp),
  2. Chie Sotozono (csotozon{at}ophth.kpu-m.ac.jp),
  3. Tsutomu Inatomi (tinatomi{at}ophth.kpu-m.ac.jp),
  4. Kentaro Kojima (kkojima{at}ophth.kpu-m.ac.jp),
  5. Kei Tashiro (tashiro{at}koto.kpu-m.ac.jp),
  6. Junji Hamuro (jhamuro{at}a4.rimnet.ne.jp),
  7. Shigeru Kinoshita (shigeruk{at}ophth.kpu-m.ac.jp)
  1. Kyoto Prefectural University of Medicine, Japan
  2. Kyoto Prefectural University of Medicine, Japan
  3. Kyoto Prefectural University of Medicine, Japan
  4. Kyoto Prefectural University of Medicine, Japan
  5. Kyoto Prefectural University of Medicine, Japan
  6. Kyoto Prefectural University of Medicine, Japan
  7. Kyoto Prefectural University of Medicine, Japan

    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.

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

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