Related Experiment Video
Updated: Jun 30, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
Genetic risk factors for drug-induced long QT syndrome: findings from a large real-world case-control study
Ana I Lopez-Medina1, Alessandra M Campos-Staffico1, Choudhary Anwar A Chahal2,3,4
1Department of Clinical Pharmacy, University of Michigan College of Pharmacy, Ann Arbor, MI, USA.
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.
Related Concept Videos
Single Nucleotide Polymorphisms-SNPs
Nonlinear Pharmacokinetics: Dependence of Elimination Half-Life and Dose Clearance
A study on guinea pigs examined the...
Antiarrhythmic Drugs: Class III Agents as Potassium Channel Blockers
Human Genetics
The complex relationship between genetics and psychology is observable through common biological components such...
Antiarrhythmic Drugs: Class I Agents as Sodium Channel Blockers
Class 1A Antiarrhythmic Drugs: These drugs work by moderately blocking sodium channels,...
Incomplete Dominance

