Key result
Two novel non-synonymous mutations (G25V and G60D) in the KCNE1 gene were identified in patients with early-onset lone atrial fibrillation, demonstrating a gain-of-function in the IKs potassium current.
Why the study?
Are mutations in the KCNE1 gene associated with early-onset lone atrial fibrillation?
Population
209 unrelated early-onset lone atrial fibrillation (AF) patients (age < 40 years)
Comparison
Bidirectional sequencing of the entire coding… vs Control group and publicly available databases
Design
Case-control
Authors
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KCNE1 gain-of-function mutations may contribute to early-onset lone AF; extends genetic associations but remains hypothesis-generating.
Case-Control (n=425)
Yes
Are mutations in the KCNE1 gene associated with early-onset lone atrial fibrillation?
Mutations in the beta-subunit KCNE1 leading to gain-of-function of IKs current are associated with early-onset lone atrial fibrillation, supporting the role of increased potassium current in AF susceptibility.
Olesen et al. (2012) conducted a case-control in Early-onset lone atrial fibrillation (n=425). KCNE1 mutations (G25V and G60D) vs. Wild-type KCNE1 (healthy controls) was evaluated on Presence of non-synonymous mutations in the KCNE1 gene. Two novel non-synonymous mutations (G25V and G60D) in the KCNE1 gene were identified in patients with early-onset lone atrial fibrillation, demonstrating a gain-of-function in the IKs potassium current.
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