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Functional (Pharmaco) Genomics and Genetics in Atrial Fibrillation Associated with Sudden Cardiac Death Syndromes

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Genetics and Genomics".

Deadline for manuscript submissions: 30 March 2026 | Viewed by 85

Special Issue Editors

Dr. Hector Barajas-Martinez

E-Mail Website
Guest Editor
Department of Cardiovascular Research, Lankenau Institute for Medical Research, Wynnewood, PA 19096, USA
Interests: molecular genetics; sudden cardiac death; ion channels; arrhythmias; translation medicine; pharmacology
Special Issues, Collections and Topics in MDPI journals
Prof. Dr. Anthony Ashton

E-Mail Website
Guest Editor
Division of Cardiovascular Medicine, Lankenau Institute for Medical Research, Wynnewood, PA 19096, USA
Interests: G-protein coupled receptors; angiogenesis; cardiac remodeling; pregnancy; placentation
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Atrial fibrillation (AF) is the most common type of sustained cardiac arrhythmia, characterized by disorganized electrical activity in the atria. AF is a growing global health concern, with an estimated 52.6 million people worldwide living with AF in 2021. The incidence of AF is rising due to aging populations and increasing prevalence of risk factors including hypertension, obesity, and alcohol use. The economic burden of AF is staggering, with the treatment of patients in the US and Europe costing up to USD 26 billion, depending on prevalence and treatment intensity, at an average cost per patient of >USD 53,000 (significantly higher than for non-AF patients).

Electrical chaos is largely driven by ion channel remodeling, which alters the heart’s electrophysiological properties. Changes in voltage-gated and non-voltage-gated ion channels have been reported in the pathogenesis of AF. These changes are part of electrical remodeling, which occurs alongside structural remodeling (e.g., fibrosis, cellular differentiation), which further sustains AF. Atrial fibrillation is not just an electrical glitch—it is a complex interplay of ion channel dysfunction, cellular remodeling, and systemic risk factors. Its rising global incidence and economic costs demand more targeted therapies, especially those that address its molecular underpinnings such as ion channel modulation.

This Special Issue will address genetics, genomics, 3D and AI-based structural analyses and molecular pathways regulating ion channel function in AF and the potential for future therapeutic opportunities regarding this debilitating disease

Dr. Hector Barajas-Martinez
Prof. Dr. Anthony Ashton
Guest Editors

Manuscript Submission Information

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Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

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Keywords

  • atrial fibrillation
  • sudden cardiac death syndromes
  • channelopathies

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Published Papers (1 paper)

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Research

15 pages, 3603 KB  
Article
Atrial Fibrillation and Primary Cilia-Associated Genes: The Role of CEP68
by Zhenyu Dong, Rushd F. M. Al-Shama, Nicoline W. E. van den Berg, Makiri Kawasaki, Marc M. Terpstra, Nerea Arrarte Terreros, Elise L. Hulsman, Aldo Jongejan, Rishi A. Arora, Wim Jan P. van Boven, Antoine H. G. Driessen, Connie R. Bezzina, Sean J. Jurgens and Joris R. de Groot
Int. J. Mol. Sci. 2026, 27(3), 1498; https://doi.org/10.3390/ijms27031498 - 3 Feb 2026
Abstract
Recent studies have demonstrated that primary cilia not only play a role in cardiovascular development, but also in the progression of acquired heart disease. Their role in atrial fibrillation (AF) is incompletely understood. We hypothesize that there is a causal link between primary [...] Read more.
Recent studies have demonstrated that primary cilia not only play a role in cardiovascular development, but also in the progression of acquired heart disease. Their role in atrial fibrillation (AF) is incompletely understood. We hypothesize that there is a causal link between primary cilia genes and the occurrence of AF. We integrated AF GWAS data with various multi-omic datasets—including data on gene expression, DNA methylation, and protein expression quantitative trait loci (eQTL, mQTL, and pQTL)—from human left atrial appendage (LAA) tissues and blood. Genetic variants linked to primary cilia-related genes were used as instrumental variables to explore their causal links to AF, through summary-data-based Mendelian randomization (SMR) and Bayesian colocalization. Single-cell sequencing data were used to analyze the expression of the selected genes across different cell types. The mechanisms by which the selected genes exert their effects were explored using RNA sequencing data, clinical indicators, and immunohistochemical markers from 22 patients without AF from the PREDICT-AF cohort, and 21 patients with paroxysmal AF and 19 patients with persistent AF from the MARK-AF cohort. Through SMR analyses, we established significant associations between predicted CEP68 expression and AF in both blood (OR 1.25; 95% CI 1.18–1.33; false discovery rate (FDR) = 1.81 × 10−9) and LAA tissue (OR 1.12; 95% CI 1.08–1.16; FDR = 6.18 × 10−9). Moreover, predicted methylation of CEP68 showed an inverse relationship with AF risk (OR 0.87; 95% CI 0.84–0.90; FDR = 2.55 × 10−15). Colocalization results for CEP68 in both blood and the LAA indicated strong evidence of a shared causal variant. Within single-cell data, compared to the control group, AF patients had higher levels of CEP68 in fibroblasts (p = 0.046). In bulk RNA-seq data, CEP68 expression showed no significant differences among the no AF, paroxysmal AF, and persistent AF groups. CEP68 was positively correlated with the cardiac remodeling marker Thrombospondin-2 in 22 patients without AF from the PREDICT-AF cohort (r = 0.45, p = 0.03). In AF patients from the MARK-AF study, CEP68 was also positively associated with LAVI (r = 0.34, p = 0.03). Collectively, our results support a model in which genetically predicted CEP68 regulation is linked to AF liability and is consistent with fibroblast activation and remodeling-related pathways as potential mediators. Full article
(This article belongs to the Special Issue Functional (Pharmaco) Genomics and Genetics in Atrial Fibrillation Associated with Sudden Cardiac Death Syndromes)
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