中国南方汉族人群中卡马西平导致SJS/TEN与HLA-B基因的相关性

摘要

To explore the correlation between carbamazepine (CBZ) induced Stevens-Johnson syndrome /toxic epidermal necrolysis (SJS/TEN) and HLA-B gene in southern Han Chinese. Methods Samples from 11 patients with CBZ-induced SJS/TEN (CBZ-SJS/TEN group),93 CBZ-tolerant patients (CBZ-tolerant group), and 93 normal subjects as controls (control group) were collected, all the patients were southern Han Chinese. HLA-B genotype was detected by polymerase chain reaction with sequence specific primers (PCR-SSP) and sequencing. Results The positive rate of HLA-B * 1502 gene in CBZ-SJS/TEN group was 72.7% , which was significantly higher than those in CBZ-tolerant group and control group. The genotypes of the 3 HLA-B * 1502 gene negative patients were HLA-B * 1511/1511, 5401/5401, and 4001/4601, respectively. Except HLA-B * 1502 and HLA-B * 1511, there was no significant difference in the frequency of the other HLA-B alleles between CBZ-SJS/ TEN patients and normal southern Han Chinese. Conclusions There existed the association between HLA-B * 1502 and CBZ-induced SJS/TEN, genotype testing before initiating CBZ therapy is suggested in Han Chinese. Furthermore, physicians should also be vigilant about SJS/TEN in those with negative HLA-B * 1502.%目的:探讨中国南方汉族人群中卡马西平(CBz)所致Stevens-Johnson综合征/中毒性表皮坏死松 解症(SJS/TEN)与HLA-B基因的相关性.方法:采用病例对照研究,收集11例CBZ-SJS/TEN患者(CBZ-SJS/TEN组)、93例CBZ耐受患者(CBz耐受组)及93例未服用抗癫痫药物的正常人(正常对照组).PCR和测序法检测其HLA-B * 1502基因型;X2检验分析HLA-B * 1502及其他HLA-B位点与CBZ-SJS/TEN的相关性.结果:CBZ-SJS/TEN组的HLA-B * 1502基因阳性率为72.7%,显著高于CBZ耐受组及正常对照组.3例HLA-B * 1502阴性CBZ-SJS/TEN患者的基因型分别为HLA-B * 1511/1511、5401/5401及4001/4601.除HLA-B * 1502之外,HLA-B * 1511基因频率在CBZ-SJS/TEN患者与中国南方汉族正常人群之间具有显著的统计学差异,其他位点差异均无显著性.结论:在我国南方汉族人群中HLA-B * 1502与CBZ-SJS/TEN具有相关性,建议汉族人群在服用CBZ前应该进行基因型检测.同时,对HLA-B * 1502阴性个体使用CBZ治疗时,需密切监视,避免SJS/TEN的出现.