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卡马西平所致药疹与CYP3A4*18B基因型的关联性初探

Association between CYP3A4*18B genotype and Carbamazepine-Induced Cutaneous Adverse Reactions

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【作者】 王倩潘军利周列民方子妍陈柳静陈树达陈子怡杨丽白蔡晓冬周珏倩

【Author】 WANG Qian 1 , PAN Junli 2 , ZHOU Liemin 1 , FANG Ziyan 1 , CHEN Liujing 1 , CHEN Shuda 1 , CHEN Ziyi 1 , YANG Libai 1 , CAI Xiaodong 1 , ZHOU Jueqian 1 (1. Department of Neurology, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong 510080, China; 2. Department of Neurology, The People’s Hospital of Zhongshan, Zhongshan, Guangdong 528403, China)

【机构】 中山大学附属第一医院神经内科广东省中山市人民医院神经内科

【摘要】 目的初步探讨卡马西平所致药疹与CYP3A4*18B基因型的关系,以寻找预测药疹的分子学手段。方法用PCR-RFLP法检测65例卡马西平所致药疹组患者(重型药疹患者11名,轻型药疹患者54名)、100例卡马西平耐受组患者及100例健康对照组患者的CYP3A4*18B(intron10,G20338→A)基因多态性。结果卡马西平所致药疹组CYP3A4*1/CYP3A4*1(G/G)基因型30例,CYP3A4*1/CYP3A4*18B(G/A)基因型30例,CYP3A4*18B/CYP3A4*18B(A/A)基因型5例,等位基因A频率为30.8%;卡马西平耐受组G/G基因型51例,G/A基因型42例,A/A基因型7例,等位基因A频率为28%;健康对照组G/G基因型44例,G/A基因型49例,A/A基因型7例,等位基因A频率为31.5%。各组间基因型与等位基因频率差异均无统计学意义。结论由于病例数较少,目前尚没有发现卡马西平药疹与CYP3A4*18B相关联。

【Abstract】 Objective To explore the association between CYP3A4*18B genotype and carbamazepineinduced cutaneous adverse reactions and find the molecular method for predicting carbamazepine-induced cutaneous adverse reactions. Methods CYP3A4*18B(intron 10, G20338 → A) genetic polymorphisms were detected by a polymerase chain reaction restriction fragment length polymorphism(PCR-RFLP) method on 65 subjects who had carbamazepine-induced cutaneous adverse reactions, including 11 patients with Stevens-Johnson syndrome or Toxic epidermal necrolysis and 54 patients with maculopapular eruption, 100 carbamazepine-tolerant controls, and 100 normal individuals. Results In carbamazepine-induced cutaneous adverse reaction group, there were 30 subjects with CYP3A4*1/CYP3A4*1(G/G) genotype, 30 subjects with CYP3A4*1/CYP3A4*18B(G/A) genotype, and 5 subjects with CYP3A4*18B/CYP3A4*18B(A/A) genotype. The frequency of allele A was 30.8%. In carbamazepinetolerant controls, 51 subjects were G/G genotype, 42 subjects were G/A genotype, and 7 subjects were A/A genotype. The frequency of allele A was 28%. In normal individuals, 44 subjects were G/G genotype, 49 subjects were G/A genotype, and 7 subjects were A/A genotype. The frequency of allele A was 31.5%. The difference of neither the frequency of CYP3A4*18B genotype nor the one of allele A between carbamazepine-induced cutaneous adverse reactions group and carbamazepine-tolerant controls had any statistical significance, and the same result was found between carbamazepine-induced cutaneous adverse reactions groups and normal controls. Conclusion The data could not show any association between carbamazepine-induced cutaneous adverse reactions and CYP3A4*18B.

【关键词】 卡马西平药疹CYP3A4*18B关联性
【Key words】 CarbamazepineCutaneous adverse reactionCYP3A4*18BAssociation
【基金】 国家自然科学基金(81071050);广东省科技计划(2007B0315102004、2009B060700108)
  • 【文献出处】 分子诊断与治疗杂志 ,Journal of Molecular Diagnostics and Therapy , 编辑部邮箱 ,2011年04期
  • 【分类号】R758.25
  • 【被引频次】6
  • 【下载频次】253
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