Toll-like receptor 3 gene polymorphisms in Japanese patients with Stevens-Johnson syndrome
Toll-like receptor 3 gene polymorphisms in Japanese patients with Stevens-Johnson syndrome
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DOI：
10.1136/bjo.2006.113449
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发表时间：
2007-07-01
影响因子：
4.1
通讯作者：
Kinoshita, Shigeru
中科院分区：
文献类型：
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作者：
Ueta, Mayumi;Sotozono, Chie;Kinoshita, Shigeru
背景与目的：Stevens-Johnson综合征(SJS)和中毒性表皮坏死松解症(TEN)是由感染性和/或刺激性药物引起的急性起病的粘膜皮肤病。鉴于SJS/TEN的发病与感染之间的关联，我们考虑了SJS/TEN与紊乱的先天免疫反应之间存在关联的可能性。针对感染的第一道防线是由进化上保守的分子组成的，即Toll样受体(TLRs)。方法：日本JSNP数据库报道了人类TLR3基因的7个SNP，其中3个位于外显子区域(即293248A/G、293391A/G和299698T/G)，另外4个位于内含子区域(即294440G/C、294732C/T、208036T/C和298054C/T)。结果：SNP299698T/G、293248A/A、299698T/T等位基因与SJS/TEN密切相关。结论：TLR3基因多态性可能与日本人群SJS/TEN相关。
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.