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Chunk #32 — Discussion

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Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain.
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We have performed an eQTL analysis using SNPs from the NHGRI catalog of GWAS in two tissue types, blood and brain (frontal cortex and cerebellum). The nominated SNPs are associated with a variety of human traits, including diseases, physiological markers such as blood cell numbers and continuous traits such as height. We specifically addressed whether it is necessary to examine brain tissue to detect eQTLs for brain phenotypes or whether the same information could be obtained from blood. We find that while many eQTLs are shared between blood and brain tissues, there are specific instances, not always simply related to gene expression levels, where the detection of eQTLs is limited by the tissue studied.