rs9263726 is a specific genetic marker for allopurinol-induced severe cutaneous adverse reactions in Chinese patients
rs9263726 is a specific genetic marker for allopurinol-induced severe cutaneous adverse reactions in Chinese patients
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rs9263726是中国患者别嘌呤醇引起的严重皮肤不良反应的特异性遗传标记
DOI：
10.2217/pme.15.38
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发表时间：
2015-01-01
影响因子：
2.3
通讯作者：
Miao, Liyan
中科院分区：
文献类型：
--
作者：
Chen, Zhiyao;Zhang, Shichao;Miao, Liyan
目的：筛选一种易于检测的生物标志物来替代HLA-B等位基因变异（HLA-B*58:01）检测，用于预测中国东部患者别嘌呤醇诱导的严重皮肤不良反应（scar）。方法：对17例别嘌呤醇诱导的疤痕患者和151例对照患者的6个snp和HLA-B*58:01进行分析。通过焦磷酸测序分析snp，并通过基于测序的技术评估HLA-B*58:01。研究了基于测序的HLA-B*58:01检测与基于焦磷酸测序的rs9263726检测在262例个体中的一致性。结果：别嘌呤醇诱导的疤痕与rs9263726（比值比：108.8）和HLA-B*58:01（比值比：108.8）存在显著相关性。基于测序的HLA-B*58:01检测与基于焦磷酸测序的rs9263726检测的kappa值为0.96(>0.75)，两者吻合较好。结论：rs9263726可作为HLA-B*58:01检测在中国东部地区患者别嘌呤醇诱导的疤痕预筛查中的替代指标。
Aim: Screening of an easily detectable biomarker to replace the HLA allele B variant (HLA-B*58:01) testing for predicting allopurinol-induced severe cutaneous adverse reactions (SCARs) in eastern Chinese patients. Methods: Six SNPs and the HLA-B*58:01 were analyzed in 17 patients with allopurinol-induced SCARs and in 151 control patients. SNPs were analyzed by pyrosequencing, and HLA-B*58:01 was evaluated by sequencing-based techniques. Consistency between sequencing-based HLA-B*58:01 testing and pyrosequencing-based rs9263726 testing was investigated in 262 individuals. Results: A significant association with allopurinol-induced SCARs was found at rs9263726 (odds ratio: 108.8) and HLA-B*58:01 (odds ratio: 108.8). The kappa values between sequencing-based HLA-B*58:01 testing and pyrosequencing-based rs9263726 testing were 0.96 (>0.75), demonstrating they were well coincident with each other. Conclusion: rs9263726 was a useful surrogate of HLA-B*58:01 testing for prescreening allopurinol-induced SCARs in eastern Chinese patients.