PDF(Pubmed)
Abstract：
Aim: Drug-induced long QT syndrome (diLQTS), an adverse effect of many drugs, can lead to sudden cardiac death. Candidate genetic variants in cardiac ion channels have been associated with diLQTS, but several limitations of previous studies hamper clinical utility. Materials & methods: Thus, the purpose of this study was to assess the associations of KCNE1-D85N, KCNE2-I57T and SCN5A-G615E with diLQTS in a large observational case-control study (6,083 self-reported white patients treated with 27 different high-risk QT-prolonging medications; 12.0% with diLQTS). Results: KCNE1-D85N significantly associated with diLQTS (adjusted odds ratio: 2.24 [95% CI: 1.35-3.58]; p = 0.001). Given low minor allele frequencies, the study had insufficient power to analyze KCNE2-I57T and SCN5A-G615E. Conclusion: KCNE1-D85N is a risk factor for diLQTS that should be considered in future clinical practice guidelines.
Some medications can lead to a condition called drug-induced long QT syndrome (diLQTS), which can be a serious abnormal heart rhythm in some patients. In our research, we explored three specific changes in DNA related to the electrical function of the heart (KCNE1-D85N, KCNE2-I57T, SCN5A-G615E) and their link to diLQTS. Our study revealed a connection between KCNE1-D85N and diLQTS. This study emphasized the importance of including KCNE1-D85N in the medical guidelines to help identify patients at risk of diLQTS. We were unable to identify the connection of KCNE2-I57T and SCN5A-G615E with diLQTS, due to a low number of carriers in the study.
Some medications can lead to a condition called drug-induced long QT syndrome (diLQTS), which can be a serious abnormal heart rhythm in some patients. In our research, we explored three specific changes in DNA related to the electrical function of the heart (KCNE1-D85N, KCNE2-I57T, SCN5A-G615E) and their link to diLQTS. Our study revealed a connection between KCNE1-D85N and diLQTS. This study emphasized the importance of including KCNE1-D85N in the medical guidelines to help identify patients at risk of diLQTS. We were unable to identify the connection of KCNE2-I57T and SCN5A-G615E with diLQTS, due to a low number of carriers in the study.
摘要：
目的：药物诱导的长QT综合征（diLQTS），许多药物的副作用，会导致心脏猝死.心脏离子通道中的候选遗传变异与diLQTS相关，但是先前研究的一些局限性阻碍了临床应用。材料和方法：因此，这项研究的目的是评估KCNE1-D85N，在一项大型观察性病例对照研究中，KCNE2-I57T和SCN5A-G615E与diLQTS（6,083例自我报告的白人患者接受了27种不同的高风险QT延长药物治疗；12.0％使用diLQTS）。结果：KCNE1-D85N与diLQTS显著相关（校正比值比：2.24[95%CI：1.35-3.58]；p=0.001）。鉴于次要等位基因频率较低，本研究分析KCNE2-I57T和SCN5A-G615E的功效不足.结论：KCNE1-D85N是diLQTS的危险因素，应在未来的临床实践指南中加以考虑。
一些药物可导致称为药物诱导的长QT综合征（diLQTS）的病症，这可能是一些患者的严重异常心律。在我们的研究中,我们探索了与心脏电功能相关的DNA的三个特定变化（KCNE1-D85N，KCNE2-I57T,SCN5A-G615E）及其与diLQTS的链接。我们的研究揭示了KCNE1-D85N和diLQTS之间的联系。这项研究强调了在医学指南中纳入KCNE1-D85N的重要性，以帮助识别有diLQTS风险的患者。我们无法识别KCNE2-I57T和SCN5A-G615E与diLQTS的连接，由于研究中的携带者数量少。
一些药物可导致称为药物诱导的长QT综合征（diLQTS）的病症，这可能是一些患者的严重异常心律。在我们的研究中,我们探索了与心脏电功能相关的DNA的三个特定变化（KCNE1-D85N，KCNE2-I57T,SCN5A-G615E）及其与diLQTS的链接。我们的研究揭示了KCNE1-D85N和diLQTS之间的联系。这项研究强调了在医学指南中纳入KCNE1-D85N的重要性，以帮助识别有diLQTS风险的患者。我们无法识别KCNE2-I57T和SCN5A-G615E与diLQTS的连接，由于研究中的携带者数量少。
