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首页> 外文期刊>Pharmacogenomics and Personalized Medicine >CYP2C19*2 status in patients with Stevens-Johnson syndrome and toxic epidermal necrolysis
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CYP2C19*2 status in patients with Stevens-Johnson syndrome and toxic epidermal necrolysis

机译：史蒂文斯-约翰逊综合征和毒性表皮坏死症患者的CYP2C19 * 2状态

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Purpose: Genetic polymorphisms have been linked to an increased predisposition to developing certain diseases. For example, patients of Han-Chinese descent carrying the HLA-B*1502 allele are at an increased risk of developing Stevens-Johnson syndrome and toxic epidermal necrolysis (SJS/TEN) if given carbamazepine. Given the complexity of in vivo drug metabolism, it is plausible that the activity of enzyme systems unrelated to specific drug metabolism may be important. Although multiple biomarkers have been identified in unique ethnic groups, there has yet to be a study investigating the presence of the slow metabolizing allele of CYP2C19, denoted CYP2C19*2, in diverse groups and the risk of developing SJS/TEN. Patients and methods: This study looked into the carrier status of CYP2C19*2, a poor metabolizing variant of CYP2C19, in patients diagnosed with SJS/TEN. We looked at its status in our series as a whole and when patients were divided by ethnicity. Genomic DNA was extracted from formalin-fixed paraffin-embedded tissue of patients with biopsy-proven SJS/TEN and real-time polymerase chain reaction was used to assess for the presence of CYP2C19*2. Results: CYP2C19*2 status was determined in 47 patients. Twenty-nine of these 47 patients had a single medication implicated as causing their disease, and eight of these patients were heterozygous or homozygous for CYP2C19*2. There was insufficient evidence to conclude that the presence of CYP2C19*2 is an independent predictor of risk for developing SJS/TEN in our series as a whole. This analysis also confirmed that the frequency of the CYP2C19*2 polymorphism within the different ethnicities in our series did not vary statistically from reported ethnic rates. Conclusion: Our study was unable to show a relationship between CYP2C19*2 status and predisposition toward SJS/TEN. We had a heterogeneous population, making it difficult to control for possible confounding factors.
机译：目的：遗传多态性与患某些疾病的易感性增加有关。例如，携带卡马西平的汉族人携带HLA-B * 1502等位基因的患史蒂文斯-约翰逊综合征和中毒性表皮坏死症（SJS / TEN）的风险增加。考虑到体内药物代谢的复杂性，与特定药物代谢无关的酶系统的活性可能很重要。尽管在独特的种族群体中已鉴定出多种生物标志物，但尚无一项研究调查不同人群中CYP2C19慢代谢等位基因（称为CYP2C19 * 2）的存在以及发生SJS / TEN的风险。患者和方法：本研究调查了被诊断为SJS / TEN的患者CYP2C19 * 2（CYP2C19的代谢不良变异）的携带者状态。我们在整个系列以及患者按种族划分时查看了它的状态。从经活检证实的SJS / TEN患者的福尔马林固定石蜡包埋的组织中提取基因组DNA，并使用实时聚合酶链反应评估CYP2C19 * 2的存在。结果：确定47例患者的CYP2C19 * 2状态。在这47名患者中，有29名与一种疾病相关的单一药物治疗，其中8名患者的CYP2C19 * 2是纯合子或纯合子。没有足够的证据得出结论，CYP2C19 * 2的存在是我们整个系列中发生SJS / TEN风险的独立预测因子。该分析还证实，在我们系列的不同种族中，CYP2C19 * 2多态性的频率与报告的种族比率没有统计学差异。结论：我们的研究未能显示CYP2C19 * 2状态与SJS / TEN易感性之间的关系。我们的人口种类繁多，难以控制可能的混杂因素。

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