A genome-wide association between foveal thickness and arrhythmia

The fovea is one of the most crucial parts of the visual system and has a special structure. We aimed to identify susceptibility single nucleotide polymorphisms (SNPs) for foveal thickness in a large Japanese cohort. Genome-wide association study (GWAS) and replication studies were conducted in 9850 individuals from the Nagahama Study (from 2013 to 2016) and 935 individuals from the Hisayama Study. Genome-wide quantitative trait loci analyses and phenome-wide association study (PheWAS) were conducted using Biobank Japan Data for novel susceptibility SNPs. Finally, phenotypic associations were evaluated in the Nagahama Study. Here we show that rs4903064, located in Double PHD Fingers 3 (DPF3), is genome-wide significantly associated with foveal thickness, which is confirmed by replication studies and meta-analysis (β = 2.18, standard error = 0.59, P = 2.93 × 10−13). PheWAS identifies that the SNP was phenome-wide significantly associated with arrhythmia (β = −0.049, SE = 0.012, P = 2.50 × 10−5). In the Nagahama Study, individuals with a thicker fovea have a significantly lower risk of premature atrial/ventricular contraction (odds ratio = 0.86, 95% confidence interval = 0.75 to 0.98, P-value = 0.022). We identify a novel foveal thickness susceptibility gene that is also associated with arrhythmia. Individuals with premature atrial/ventricular contraction may be advised to undergo ophthalmological evaluation as necessary. Nakao et al. conduct and validate a phenome-wide association study on foveal thickness and find DPF3 (rs4903064) correlates with a reduced risk of arrhythmia, specifically premature cardiac complex, suggesting a link between foveal thickness and cardiovascular health. The fovea is one of the most crucial parts of the visual system and has a special structure. Foveal thickness can vary between individuals, and understanding the genetic factors behind this variation is important. In this study, we analyzed data from a large Japanese population cohort to identify genetic variants associated with foveal thickness. We identified a genetic variant in the Double PHD Fingers 3 (DPF3) gene associated with foveal thickness. Interestingly, individuals with this genetic variant were also associated with arrhythmia. These findings suggest there may be an association between eye and heart health, although further research is needed to better understand this relationship and its implications.