Ueta Mayumi, Sotozono Chie, Inatomi Tsutomu, Kojima Kentaro, Tashiro Kei, Hamuro Junji, Kinoshita Shigeru
Department of Ophthalmology, Kyoto Prefectural University of Medicine, 465 Kajiicho, Hirokoji, Kawaramachi, Kamigyoku, Kyoto 602-0841, Japan.
Br J Ophthalmol. 2007 Jul;91(7):962-5. doi: 10.1136/bjo.2006.113449. Epub 2007 Feb 21.
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.
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.
SNP 299698T/G and the genotype patterns of 293248A/A and 299698T/T were strongly associated with SJS/TEN.
The results suggest that polymorphisms in the TLR3 gene could be associated with SJS/TEN in the Japanese population.
史蒂文斯-约翰逊综合征(SJS)和中毒性表皮坏死松解症(TEN)是由感染因子和/或诱发药物引起的急性起病的黏膜皮肤疾病。鉴于SJS/TEN的发病与感染之间的关联,人们考虑SJS/TEN与先天性免疫反应紊乱之间存在关联的可能性。抵御感染的第一道防线由进化上保守的分子组即Toll样受体(TLR)组成。TLR3识别与病毒感染相关的双链RNA。
日本单核苷酸多态性(JSNP)数据库报告了人类TLR3基因中由7个单核苷酸多态性(SNP)组成的7种多态性;7个SNP中的3个在外显子区域编码(即293248A/G、293391A/G和299698T/G),另外4个在内含子区域编码(即294440G/C、294732C/T、208036T/C和298054C/T)。对57例患有眼表并发症的日本SJS/TEN患者和160例日本健康对照者分析了这7个SNP。
SNP 299698T/G以及293248A/A和299698T/T的基因型模式与SJS/TEN密切相关。
结果表明,TLR3基因多态性可能与日本人群的SJS/TEN有关。