SynthesisCirculation. Cardiovascular genetics2013
Identification of a KCNQ1 polymorphism acting as a protective modifier against arrhythmic risk in long-QT syndrome.
Synthesis in Circulation. Cardiovascular genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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Who cites it
29 citing papers in PubMed, 71 citations in OpenAlex.
- KCNQ1 Polymorphism in the Context of Ischemic Cardiomyopathy: A Potential Key to Decision-Making for Device Implantation.Clinical cardiology · 2025Article
- Implantable defibrillators in primary prevention of genetic arrhythmias. A shocking choice?European heart journal · 2022Review
- Deciphering Common Long QT Syndrome Using CRISPR/Cas9 in Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes.Frontiers in cardiovascular medicine · 2022Review
- Mutation location and IKs regulation in the arrhythmic risk of long QT syndrome type 1: the importance of the KCNQ1 S6 region.European heart journal · 2021Article
- When genetic burden reaches threshold.European heart journal · 2020Article
- Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome.Circulation · 2020Article
- Genome-wide association studies of cardiac electrical phenotypes.Cardiovascular research · 2020Review
- Review
- Effects of antidepressants on QT interval in people with mental disorders.Archives of medical science : AMS · 2020Review
- Beyond the One Gene-One Disease Paradigm: Complex Genetics and Pleiotropy in Inheritable Cardiac DisordersCirculation · 2019Review
- Long QT Syndrome Modelling with Cardiomyocytes Derived from Human-induced Pluripotent Stem Cells.Arrhythmia & electrophysiology review · 2019Review
- Association of Genetic and Clinical Aspects of Congenital Long QT Syndrome With Life-Threatening Arrhythmias in Japanese Patients.JAMA cardiology · 2019Observational
- Modifier genes for sudden cardiac death.European heart journal · 2018Review
- Effects of atypical antipsychotic drugs on QT interval in patients with mental disorders.Annals of translational medicine · 2018Article
- A systematic analysis highlights multiple long non-coding RNAs associated with cardiometabolic disorders.Journal of human genetics · 2018Article
- Into the Wild: GWAS Exploration of Non-coding RNAs.Frontiers in cardiovascular medicine · 2018Review
- Congenital Long QT syndrome and torsade de pointes.Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc · 2017Review
- Integrating cardiomyocytes from human pluripotent stem cells in safety pharmacology: has the time come?British journal of pharmacology · 2017Review
- The ACVRL1 c.314-35A>G polymorphism is associated with organ vascular malformations in hereditary hemorrhagic telangiectasia patients with ENG mutations, but not in patients with ACVRL1 mutations.American journal of medical genetics. Part A · 2015Article
- Analysis for Genetic Modifiers of Disease Severity in Patients With Long-QT Syndrome Type 2.Circulation. Cardiovascular genetics · 2015Article
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Authors and funding
26 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundLong-QT syndrome (LQTS) is characterized by such striking clinical heterogeneity that, even among family members carrying the same mutation, clinical outcome can range between sudden death and no symptoms. We investigated the role of genetic variants as modifiers of risk for cardiac events in patients with LQTS. METHODS AND
resultsIn a matched case-control study including 112 patient duos with LQTS from France, Italy, and Japan, 25 polymorphisms were genotyped based on either their association with QTc duration in healthy populations or on their role in adrenergic responses. The duos were composed of 2 relatives harboring the same heterozygous KCNQ1 or KCNH2 mutation: 1 with cardiac events and 1 asymptomatic and untreated. The findings were then validated in 2 independent founder populations totaling 174 symptomatic and 162 asymptomatic patients with LQTS, and a meta-analysis was performed. The KCNQ1 rs2074238 T-allele was significantly associated with a decreased risk of symptoms 0.34 (0.19-0.61; P<0.0002) and with shorter QTc (P<0.0001) in the combined discovery and replication cohorts.
conclusionsWe provide evidence that the KCNQ1 rs2074238 polymorphism is an independent risk modifier with the minor T-allele conferring protection against cardiac events in patients with LQTS. This finding is a step toward a novel approach for risk stratification in patients with LQTS.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.