paperKB
coga / coga-kb
Help
Sign in

Chunk #17 — RESULTS — Regionally heterogeneous cis-eQTL signals

Source
Genetic variability in the regulation of gene expression in ten regions of the human brain.
Embedded
yes

Text

We found that regional heterogeneity in the action of cis-eQTL signals was evident not only from variable signal strength, but also from variability in their target of action. Excluding average-all signals, our data set contained 44,270 cis-eQTL subsignals (sentinel–expression ID–region combinations) involving 12,748 sentinels. 9,384 of these sentinels (73.6%) regulated a single gene in a single brain region only, while 2,762 (21.6%) regulated a single gene across multiple brain regions. Intriguingly, 602 of these sentinels cis-regulated multiple genes, with a maximum of 10 genes regulated by the same marker (Supplementary Table 6). 312 of these regulated different genes with at least one marker–gene relationship being unique to a single brain region, and 96 of these sentinels regulated multiple gene targets all of which were region specific (as based on the absence of a significant cis-eQTL signal in another brain region and on significant regional heterogeneity using our modified test of heterogeneity). One of the most interesting examples of such markers is rs73009150, which was a cis-eQTL signal for RNF214 in medulla, for PAFAH1B2 in cerebellum and putamen, and for SIK3