Association of human antigen class I genes with cold medicine-related Stevens-Johnson syndrome with severe ocular complications in a Korean population

Association of human antigen class I genes with cold medicine-related Stevens-Johnson syndrome with severe ocular complications in a Korean population
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DOI:
10.1136/bjophthalmol-2018-313263
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发表时间:
2019-04-01
影响因子:
4.1
通讯作者:
Ueta, Mayumi
Ueta, Mayumi
中科院分区:
医学2区
文献类型:
--
作者:
Jun, Ikhyun;Rim, John Hoon;Ueta, Mayumi

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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)是引起皮肤和粘膜急性水泡性反应的一系列疾病。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)。本研究旨在探讨韩国人群中人类白细胞抗原(HL A)I类基因与CM相关的SJS/TEN(CM-SJS/TEN)与严重眼部并发症(SOC)之间的关系。方法采用多中心病例对照研究,纳入2012年1月至2014年5月间40名患有CM-SJS/TEN的韩国患者和120名年龄与性别匹配的韩国健康志愿者。结果HLAA02:06基因携带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)。HLAC*03:04携带率为30%,对照组为10.8%;HLAC*03:04基因频率为15%,对照组为5.4%(P=0.003)。HLAC*03:03携带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)。结论HLAA*02:06和HLAC*03:04可能是CM-SJS/TEN合并SOC的阳性标志物,HLAC*03:03:03可能是预防CM-SJS/TEN合并SOC的指标。
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.Methods 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-A* 02: 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-C* 03: 04 was 30 % in patients and 10.8 % in controls, and gene frequency of HLA-C* 03: 04 was 15 % in patients and 5.4 % in controls (p= 0.003). The carrier frequency and gene frequency of HLA-C* 03: 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-A* 02: 06 and HLA-C* 03: 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.