Ueta Mayumi
Department of Ophthalmology, Kyoto Prefectural University of Medicine, Kyoto, Japan.
Front Genet. 2022 Jul 11;13:912478. doi: 10.3389/fgene.2022.912478. eCollection 2022.
We investigated the genetic predisposition for the pathogenesis of Stevens-Johnson syndrome/epidermal necrolysis with severe ocular complications (SJS/TEN with SOC). Cold medicines (CMs) including multi-ingredient cold-medications and non-steroidal anti-inflammatory drugs (NSAIDs) were implicated in the development of SJS/TEN with SOC. Studies on the association between HLA genotypes and CM-related SJS/TEN with SOC (CM-SJS/TEN with SOC) revealed an association with in the Japanese; it may be a marker in Koreans. was associated with the Japanese, Thais, and Indians; in Brazilians of European ancestry, it may be a positive marker. is a susceptibility gene; and polymorphisms exerted additive effects in Japanese and Korean patients. A genome-wide association study showed that was associated with the Japanese. A meta-analysis including Japanese, Koreans, Indians, and Brazilians also revealed an association between CM-SJS/TEN with SOC and The upregulation of hsa-miR-628-3p in the plasma of SJS/TEN with SOC patients may suppress the expression of and innate immune-related genes. Not only CMs but also the interaction of , , , and and maybe some microbial infections are necessary for the onset of SJS/TEN with SOC.
我们研究了伴有严重眼部并发症的史蒂文斯-约翰逊综合征/中毒性表皮坏死松解症(SJS/TEN伴SOC)发病机制的遗传易感性。包括多成分感冒药和非甾体抗炎药(NSAIDs)在内的感冒药(CMs)与SJS/TEN伴SOC的发生有关。关于HLA基因型与CM相关的SJS/TEN伴SOC(CM-SJS/TEN伴SOC)之间关联的研究显示,在日本人中与 有关联;在韩国人中它可能是一个标志物。 在日本人、泰国人和印度人中有关联;在欧洲血统的巴西人中,它可能是一个阳性标志物。 是一个易感基因; 和 多态性在日本和韩国患者中发挥累加效应。一项全基因组关联研究表明, 在日本人中有关联。一项纳入日本人、韩国人、印度人和巴西人的荟萃分析也揭示了CM-SJS/TEN伴SOC与 之间的关联。SJS/TEN伴SOC患者血浆中hsa-miR-628-3p的上调可能会抑制 和先天免疫相关基因的表达。不仅是CMs,而且 、 、 和 之间的相互作用以及可能的一些微生物感染对于SJS/TEN伴SOC的发病都是必要的。