Department of Neurology, The First Affiliated Hospital of Sun Yet-sen University, Guangzhou, China.
Seizure. 2011 Jul;20(6):446-8. doi: 10.1016/j.seizure.2011.02.003. Epub 2011 Mar 11.
Previous studies have found a strong association between HLA-B1502 and carbamazepine-induced Stevens-Johnson syndrome in Asian areas including Taiwan, Hongkong and Thailand. This study explores the association between HLA-B1502 allele and carbamazepine-induced cutaneous adverse reactions in Han Chinese of southern China mainland, and find the genetic marker that can predict carbamazepine-induced cutaneous adverse reactions. HLA-B1502 allele genotyping was performed by a polymerase chain reaction-sequence specific primers (PCR-SSP) method in 48 Han Chinese subjects who had carbamazepine-induced cutaneous adverse reactions, including 9 severe cutaneous adverse reaction patients with Stevens-Johnson syndrome (SJS) or toxic epidermal necrolysis (TEN) and 39 cutaneous adverse reaction patients with maculopapular eruption (MPE). Meanwhile 80 carbamazepine-tolerant controls and 62 healthy individuals were also tested. The frequency of HLA-B1502 allele among SJS/TEN patients (100%) is significantly higher than carbamazepine-tolerant controls (13.75%, P<0.001) and healthy individuals (17.74%, P<0.001). But the frequency between MPE patients and carbamazepine-tolerant controls (25.64% vs.13.75%, P=0.110) did not have any significant difference. The data showed that HLA-B*1502 allele is strongly associated with carbamazepine-induced SJS/TEN but not MPE in Han Chinese of southern China mainland.
先前的研究已经发现，HLA-B1502 与亚洲地区（包括中国台湾、香港和泰国）的卡马西平诱导的史蒂文斯-约翰逊综合征之间存在很强的关联性。本研究旨在探讨 HLA-B1502 等位基因与中国大陆南方汉族人群中卡马西平诱导的皮肤不良反应之间的关联性，并寻找能够预测卡马西平诱导的皮肤不良反应的遗传标记物。采用聚合酶链反应-序列特异性引物（PCR-SSP）方法对 48 例汉族卡马西平诱导皮肤不良反应患者（包括 9 例严重皮肤不良反应患者，即史蒂文斯-约翰逊综合征或中毒性表皮坏死松解症和 39 例斑丘疹性发疹患者）进行 HLA-B1502 等位基因分型。同时还对 80 例卡马西平耐受对照者和 62 名健康个体进行了检测。SJS/TEN 患者（100%）中 HLA-B1502 等位基因的频率明显高于卡马西平耐受对照者（13.75%，P<0.001）和健康个体（17.74%，P<0.001）。但是 MPE 患者与卡马西平耐受对照者之间（25.64%比 13.75%，P=0.110）的频率并无显著差异。数据表明，HLA-B*1502 等位基因与中国大陆南方汉族人群中卡马西平诱导的 SJS/TEN 密切相关，但与 MPE 无关。
