Scientists have identified genes associated with atrial fibrillation and functional non-coding variants

Atrial fibrillation (AF) is a cardiac arrhythmia characterized by complete asynchrony of contractions of atrial myofibrils, manifested by the cessation of their pumping function. AF is the most common arrhythmia, affecting more than 34 million people worldwide.

It is now known that more than 100 loci in the genome are associated with AF. Since these variants are mainly located in non-coding regions of the genome, the prevailing hypothesis is that they interfere with the functions of regulatory elements (PE) that control transcription patterns and levels of their target genes. It is assumed that genetic variants associated with diseases that are in non-coding regions can alter the functionality of transcriptional regulatory elements and the expression of the target gene.

Scientists from the Netherlands have created five different sets of data for the expression of atrial genes to search for target genes. In their study, they focused on the atrial mechanism underlying AF, not taking into account extracardiac mechanisms such as hypertension. Most of the genes found in families with AF play a well-established role in the functioning of the heart and are involved in cardiogenesis (PITX2, TBX5), intercellular interactions (GJA1, CAV1) or ion exchange (KCNN3, HCN4). - Our study clearly indicates that the SPATS2L gene, associated with regulation of β2-adrenergic receptor levels, is a potential target gene. Other examples include the VCL gene, which is needed to stabilize gap junctions in cardiomyocytes, is involved in the attachment of F-actin to the membrane, and is associated with cardiomyopathy, the authors of the study say.

The study was published in the journal Nature Communications.