Department of Ophthalmology, The Institute of Vision Research, Yonsei University College of Medicine, Seoul, Korea.
Department of Pharmacology, Yonsei University College of Medicine, Seoul, Korea.
Br J Ophthalmol. 2019 Apr;103(4):573-576. doi: 10.1136/bjophthalmol-2018-313263. Epub 2019 Jan 31.
BACKGROUND/AIMS: Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are a spectrum of diseases that cause an acute vesiculobullous reaction in the skin and mucous membranes. The occurrence of these diseases is associated with various drugs, a large proportion of which is comprised cold medicines (CM). We try to investigate the association between human leucocyte antigen (HLA) class I genes and CM-related SJS/TEN (CM-SJS/TEN) with severe ocular complications (SOC) in the Korean population.
This multicentre case-control study enrolled 40 Korean patients with CM-SJS/TEN with SOC and 120 age-matched and sex-matched Korean healthy volunteers between January 2012 and May 2014. HLA genotyping was performed using PCR followed by hybridisation with sequence-specific oligonucleotide probes. RESULTS : The carrier frequency and gene frequency of HLA-A02:06 were 37.5 % and 20.0 %, respectively, in patients, and 16.7 % and 9.6 %, respectively, in controls (p=0.018). The carrier frequency of HLA-C03:04 was 30 % in patients and 10.8 % in controls, and gene frequency of HLA-C03:04 was 15 % in patients and 5.4 % in controls (p=0.003). The carrier frequency and gene frequency of HLA-C03:03 were 2.5 % and 1.3 %, respectively, in patients, and 20 % and 10.4 %, respectively, in controls (p=0.006). CONCLUSIONS : As per our results, we suggest that HLA-A02:06 and HLA-C03:04 might be positive markers for CM-SJS/TEN with SOC, and HLA-C*03:03 might be an indicator of protection against CM-SJS/TEN with SOC in the Korean population.
背景/目的：史蒂文斯-约翰逊综合征（SJS）和中毒性表皮坏死松解症（TEN）是一组疾病，它们会导致皮肤和黏膜出现急性水疱性反应。这些疾病的发生与各种药物有关，其中很大一部分是感冒药（CM）。我们试图研究人类白细胞抗原（HLA）I 类基因与韩国人群中伴有严重眼部并发症（SOC）的 CM 相关 SJS/TEN（CM-SJS/TEN）之间的关联。
这项多中心病例对照研究纳入了 2012 年 1 月至 2014 年 5 月期间患有伴有 SOC 的 CM-SJS/TEN 的 40 例韩国患者和 120 例年龄和性别匹配的韩国健康志愿者。采用 PCR 结合序列特异性寡核苷酸探针杂交法进行 HLA 基因分型。
患者中 HLA-A02:06 的携带频率和基因频率分别为 37.5%和 20.0%，对照组分别为 16.7%和 9.6%（p=0.018）。患者中 HLA-C03:04 的携带频率为 30%，对照组为 10.8%，患者中 HLA-C03:04 的基因频率为 15%，对照组为 5.4%（p=0.003）。患者中 HLA-C03:03 的携带频率和基因频率分别为 2.5%和 1.3%，对照组分别为 20%和 10.4%（p=0.006）。
根据我们的研究结果，我们认为 HLA-A02:06 和 HLA-C03:04 可能是韩国人群中伴有 SOC 的 CM-SJS/TEN 的阳性标志物，而 HLA-C*03:03 可能是伴有 SOC 的 CM-SJS/TEN 的保护性指标。
