Fig. 2: Different genetic regulatory patterns derived by multi-omics cis-QTL integration.

a Shared eQTLs/pQTLs represent QTLs, where the effect of transcriptional regulation translates into mRNA and protein abundance exemplified by the significant SNP-gene pair rs9664184-MYOZ1. No corresponding ratioQTL can be observed as the genetic variation is shared across both omics levels. b Independent eQTLs depict variants with regulation on mRNA but not on protein level displayed by the significant SNP-transcript pair rs2070594-ATP5C1. c Independent pQTLs represent variants that show regulation only on protein level as shown for the SNP-protein pair rs3916-ACADS. Genetic influence is not observable on transcript level. 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. Nominal P-values were derived based on two-sided t-tests for N = 75 (eQTLs), N = 75 (pQTL) and N = 66 (ratioQTL) biologically independent samples. To assess significance, FDR correction per omic based on the Benjamini-Hochberg procedure was applied to account for multiple comparisons. eQTL expression quantitative trait loci, pQTL protein quantitative trait loci, ratioQTL ratio quantitative trait loci, TssA active transcription start site, UTR untranslated region, TF BS transcription factor binding site, RBP RNA binding protein, SNP single-nucleotide polymorphism, IQR interquartile range. Source data are provided as a Source Data file.