Fig. 5: NKX2-5 activity controlled by AF GWAS variant rs9481842.

a Graphical illustration of NKX2-5 TF target gene analysis in AF. b Strong trans-eQTL of the SNP rs9481842 with the NKX2-5 transcript for N = 75 independent biological samples. c Validation of the NKX2-5 trans-eQTL on protein level (trans-pQTL) using western blot analysis in remaining tissue samples (N = 29 independent biological samples). d NKX2-5 activity estimation based on target mRNA expression stratified by the rs9481842 genotype for N = 75 independent biological samples. e Depicted are functional NKX2-5 targets with the number of TF binding sites (column 1), trans-eQTL strength (columns 2–4), trans-pQTL strength (columns 5–7) and protein level in AF (columns 8–9). The colour scale represents median transcript or protein values per group (=columns). Residuals corrected for fibroblast-score and RIN-score / protein concentration with subsequent normal-quantile-normalization per gene were used to calculate the medians per group. A quantitative description of the qualitative results presented in the heatmap can be found in Supplementary Table 16 and Table 3. In the boxplots, the lower and upper hinges correspond to the first and third quartiles (the 25th and 75th percentiles). The median is denoted by the central line in the box. The upper/lower whisker extends from the hinge to the largest/smallest value no further than 1.5 × IQR from the hinge. AF atrial fibrillation, QTL quantitative trait loci, BS binding site, IQR interquartile range *Mutation known to affect cardiovascular phenotypes, **Mutation known to affect arrhythmias, ⁺Differential expression or functional impairment for cardiovascular phenotypes, ⁺⁺Differential expression or functional impairment for arrhythmias. Source data are provided as a Source Data file.