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Arrhythmia genetics: Not dark and lite, but 50 shades of gray.心律失常遗传学：并非黑白分明，而是深浅不一的50种灰度。
Heart Rhythm. 2018 Aug;15(8):1231-1232. doi: 10.1016/j.hrthm.2018.04.031. Epub 2018 Apr 27.
2
Long QT and Brugada syndromes: from genetics to clinical management.长QT综合征和Brugada综合征：从遗传学到临床管理
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Polygenic risk score for drug-induced long QT syndrome: independent validation in a real-world patient cohort.药物诱导的长 QT 综合征的多基因风险评分：真实世界患者队列的独立验证。
Pharmacogenet Genomics. 2025 Jan 1;35(1):45-56. doi: 10.1097/FPC.0000000000000548. Epub 2024 Oct 8.
2
The role of GPD1L, a sodium channel interacting gene, in the pathogenesis of Brugada Syndrome.钠通道相互作用基因GPD1L在Brugada综合征发病机制中的作用。
Front Med (Lausanne). 2024 Jun 19;10:1159586. doi: 10.3389/fmed.2023.1159586. eCollection 2023.
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High-throughput functional mapping of variants in an arrhythmia gene, KCNE1, reveals novel biology.高通量功能映射心律失常基因 KCNE1 中的变异，揭示新的生物学机制。
Genome Med. 2024 May 30;16(1):73. doi: 10.1186/s13073-024-01340-5.
4
The genetics of drug-induced QT prolongation: evaluating the evidence for pharmacodynamic variants.药物引起的 QT 间期延长的遗传学：评估药效动力学变异的证据。
Pharmacogenomics. 2022 Jun;23(9):543-557. doi: 10.2217/pgs-2022-0027. Epub 2022 Jun 14.
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A current understanding of drug-induced QT prolongation and its implications for anticancer therapy.当前对药物引起的 QT 间期延长及其对癌症治疗的影响的理解。
Cardiovasc Res. 2019 Apr 15;115(5):895-903. doi: 10.1093/cvr/cvz013.

本文引用的文献

1
Long QT syndrome type 5-Lite: Defining the clinical phenotype associated with the potentially proarrhythmic p.Asp85Asn-KCNE1 common genetic variant.长 QT 综合征 5 型-Lite：定义与潜在致心律失常的 p.Asp85Asn-KCNE1 常见遗传变异相关的临床表型。
Heart Rhythm. 2018 Aug;15(8):1223-1230. doi: 10.1016/j.hrthm.2018.03.038. Epub 2018 Apr 3.
2
Classification and Reporting of Potentially Proarrhythmic Common Genetic Variation in Long QT Syndrome Genetic Testing.长 QT 综合征基因检测中潜在致心律失常性常见遗传变异的分类和报告。
Circulation. 2018 Feb 6;137(6):619-630. doi: 10.1161/CIRCULATIONAHA.117.030142.
3
Using high-resolution variant frequencies to empower clinical genome interpretation.利用高分辨率变异频率增强临床基因组解读。
Genet Med. 2017 Oct;19(10):1151-1158. doi: 10.1038/gim.2017.26. Epub 2017 May 18.
4
Common Genetic Variant Risk Score Is Associated With Drug-Induced QT Prolongation and Torsade de Pointes Risk: A Pilot Study.常见基因变异风险评分与药物诱导的QT间期延长及尖端扭转型室速风险相关：一项初步研究。
Circulation. 2017 Apr 4;135(14):1300-1310. doi: 10.1161/CIRCULATIONAHA.116.023980. Epub 2017 Feb 17.
5
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.序列变异解读的标准与指南：美国医学遗传学与基因组学学会和分子病理学协会的联合共识推荐
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
6
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.QT间期的遗传关联研究凸显了钙信号通路在心肌复极化中的作用。
Nat Genet. 2014 Aug;46(8):826-36. doi: 10.1038/ng.3014. Epub 2014 Jun 22.
7
A large candidate gene survey identifies the KCNE1 D85N polymorphism as a possible modulator of drug-induced torsades de pointes.一项大型候选基因研究确定KCNE1基因D85N多态性可能是药物诱导的尖端扭转型室速的一个调节因素。
Circ Cardiovasc Genet. 2012 Feb 1;5(1):91-9. doi: 10.1161/CIRCGENETICS.111.960930. Epub 2011 Nov 18.
8
Polymorphisms in the NOS1AP gene modulate QT interval duration and risk of arrhythmias in the long QT syndrome.NOS1AP 基因多态性可调节 QT 间期持续时间和长 QT 综合征的心律失常风险。
J Am Coll Cardiol. 2010 Jun 15;55(24):2745-52. doi: 10.1016/j.jacc.2009.12.065.
9
NOS1AP is a genetic modifier of the long-QT syndrome.一氧化氮合酶1适配蛋白是长QT综合征的一种基因修饰因子。
Circulation. 2009 Oct 27;120(17):1657-63. doi: 10.1161/CIRCULATIONAHA.109.879643. Epub 2009 Oct 12.
10
D85N, a KCNE1 polymorphism, is a disease-causing gene variant in long QT syndrome.D85N是一种KCNE1基因多态性，是长QT综合征中的一种致病基因变异。
J Am Coll Cardiol. 2009 Aug 25;54(9):812-9. doi: 10.1016/j.jacc.2009.06.005.

Arrhythmia genetics: Not dark and lite, but 50 shades of gray.

作者信息

Roden Dan M, Glazer Andrew M, Kroncke Brett

机构信息

Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee; Department of Pharmacology, Vanderbilt University Medical Center, Nashville, Tennessee; Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, Tennessee.

Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee.

出版信息

Heart Rhythm. 2018 Aug;15(8):1231-1232. doi: 10.1016/j.hrthm.2018.04.031. Epub 2018 Apr 27.

DOI:10.1016/j.hrthm.2018.04.031
PMID:29709575
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6590670/
Abstract
摘要