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


CONCLUSIONS
The results suggest that polymorphisms in the TLR3 gene could be associated with SJS/TEN in the Japanese population.
Ueta
Mayumi
M
Department of Ophthalmology, Kyoto Prefectural University of Medicine, 465 Kajiicho, Hirokoji, Kawaramachi, Kamigyoku, Kyoto 602-0841, Japan. mueta@ophth.kpu-m.ac.jp
Sotozono
Chie
C
Inatomi
Tsutomu
T
Kojima
Kentaro
K
Tashiro
Kei
K
Hamuro
Junji
J
Kinoshita
Shigeru
S
D000328:Adult; D000368:Aged; D016022:Case-Control Studies; D005128:Eye Diseases / Q000235:genetics* / Q000276:immunology; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D013262:Stevens-Johnson Syndrome / Q000235:genetics* / Q000276:immunology; D051196:Toll-Like Receptor 3 / Q000235:genetics*
C495344:TLR3 protein, human; D051196:Toll-Like Receptor 3