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
- Stevens-Johnson syndrome (SJS)
- Toxic epidermal necrolysis (TEN)