Atrial Structural Remodeling Gene Variants in Patients with Atrial Fibrillation
Joint Authors
Doñate Puertas, Rosa
Millat, Gilles
Ernens, Isabelle
Gache, Vincent
Chauveau, Samuel
Morel, Elodie
Christin, Emilie
Couturier, Nathalie
Chevalier, Philippe
Devaux, Yvan
Source
Issue
Vol. 2018, Issue 2018 (31 Dec. 2018), pp.1-12, 12 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2018-09-10
Country of Publication
Egypt
No. of Pages
12
Main Subjects
Abstract EN
Atrial fibrillation (AF) is a common arrhythmia for which the genetic studies mainly focused on the genes involved in electrical remodeling, rather than left atrial muscle remodeling.
To identify rare variants involved in atrial myopathy using mutational screening, a high-throughput next-generation sequencing (NGS) workflow was developed based on a custom AmpliSeq™ panel of 55 genes potentially involved in atrial myopathy.
This workflow was applied to a cohort of 94 patients with AF, 76 with atrial dilatation and 18 without.
Bioinformatic analyses used NextGENe® software and in silico tools for variant interpretation.
The AmpliSeq custom-made panel efficiently explored 96.58% of the targeted sequences.
Based on in silico analysis, 11 potentially pathogenic missense variants were identified that were not previously associated with AF.
These variants were located in genes involved in atrial tissue structural remodeling.
Three patients were also carriers of potential variants in prevalent arrhythmia-causing genes, usually associated with AF.
Most of the variants were found in patients with atrial dilatation (n=9, 82%).
This NGS approach was a sensitive and specific method that identified 11 potentially pathogenic variants, which are likely to play roles in the predisposition to left atrial myopathy.
Functional studies are needed to confirm their pathogenicity.
American Psychological Association (APA)
Doñate Puertas, Rosa& Millat, Gilles& Ernens, Isabelle& Gache, Vincent& Chauveau, Samuel& Morel, Elodie…[et al.]. 2018. Atrial Structural Remodeling Gene Variants in Patients with Atrial Fibrillation. BioMed Research International،Vol. 2018, no. 2018, pp.1-12.
https://search.emarefa.net/detail/BIM-1126957
Modern Language Association (MLA)
Doñate Puertas, Rosa…[et al.]. Atrial Structural Remodeling Gene Variants in Patients with Atrial Fibrillation. BioMed Research International No. 2018 (2018), pp.1-12.
https://search.emarefa.net/detail/BIM-1126957
American Medical Association (AMA)
Doñate Puertas, Rosa& Millat, Gilles& Ernens, Isabelle& Gache, Vincent& Chauveau, Samuel& Morel, Elodie…[et al.]. Atrial Structural Remodeling Gene Variants in Patients with Atrial Fibrillation. BioMed Research International. 2018. Vol. 2018, no. 2018, pp.1-12.
https://search.emarefa.net/detail/BIM-1126957
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1126957