Next at #BoG19: My brilliant student Elise Flynn (@EliseScience) talks about mechanisms of tissue-specificity of cis-eQTLs. Using #GTEx data, focusing on transcription factors.
@EliseScience analyzes tissue variability in eQTL effect size - measured by allelic fold change (developed by @Pejminister) that can be calculated from GTEx eQTLs from 49 tissues, also from ASE data. #bog19
It's common (10%) that eQTL effect size is correlated (pos or neg) with target gene expression across tissues.
Hypothesis: TFs underlie many eQTLs via allelic difference in binding - and then the activity of the TF would drive variable eQTL effect sizes. So do we see a relationship between TF expression (proxy for activity) and eQTL effect size?
@EliseScience finds correlation between TF expression and eQTL size across tissues, with promising enrichment in TF binding sites. Analogous correlations between individuals within tissues, using ASE data from eQTL heterozygotes. Validation analyses underway. #bog19
From hundreds of loci, we found a clear signal of PU.1 correlation with eQTL effect size for CAD-colocalized eQTL for LIPA gene. Creates binding site, allelic binding. Novel putative causal variant & mechanism which experts on this locus had missed. Experiments ongoing #bog19
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