What is Chromosome 4q25 Single Nucleotide Polymorphisms?
The 4q25 locus, situated near the PITX2 and ENPEP genes, harbours common single-nucleotide polymorphisms that modulate cardiac electrical development and left-atrial gene expression. PITX2 is a transcription factor critical to left–right cardiac asymmetry and pulmonary-vein myocardial sleeve differentiation during embryogenesis; variant alleles at rs2200733, rs10033464, and other linked SNPs alter its regulation, thereby influencing susceptibility to re-entrant circuits that trigger atrial fibrillation. These are inherited trait markers rather than acquired mutations, present from conception and stable over the lifespan.