Fig. 4: Regulatory plasticity of egQTL loci.
a Number of egQTL modules shared between iPSC-PPC and at least one adult pancreas tissue categorized by eGene overlap with adult. “Zero” indicates that the module did not contain an egQTL in the respective adult tissue. “Same” indicates that the module had egQTLs for only the same eGenes in iPSC-PPC and the adult tissue. “Partial” indicates that the module had egQTLs for partially overlapping eGenes between iPSC-PPC and the adult tissue. “Different” indicates that the module had egQTLs for only different eGenes between iPSC-PPC and the adult tissue. b–d Examples of egQTL loci demonstrating regulatory plasticity of genetic variation across fetal-like and adult pancreatic stages. Panel b shows a locus strongly associated with AC119427.1 expression in fetal-like iPSC-PPC and TNNI1 expression in adult islet and whole pancreas. Panel c shows a locus associated with MPND expression in only fetal-like iPSC-PPC but STAP2 expression in both the adult pancreatic tissues. Panel d shows a locus associated with partially overlapping eGenes between the two pancreatic stages (UROS in all three pancreatic tissues and BCCIP in only adult islets). The X-axis represents variant positions while the Y-axis shows the −log10(eQTL p-value) for the associations between the genotype of the tested variants and gene expression. For plotting purposes, we assigned a single p-value for gene-level significance after Bonferroni-correction (0.05/the number of independent variants tested in fetal-like iPSC-PPC; horizontal line). Red vertical lines indicate the positions of the lead candidate causal variants underlying the colocalization based on maximum PP.
