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Chunk #31 — Discussion

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Brain expression genome-wide association study (eGWAS) identifies human disease-associated variants.
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These findings imply that many disease-associated cisSNPs can influence gene expression idependently of tissue/region/pathology, and be mapped reliably in tissue which is unaffected, not disease-related or from unaffected subjects. Indeed, our findings are consistent with a study of lymphoblastoid cell lines from subjects affected and unaffected with asthma, where Dixon et al. [12] found no differences between asthmatics and non-asthmatics. Furthermore, they detected significant transcript level associations with SNPs that also associate with asthma. Emilsson et al. [20] performed eQTL mapping in both blood and adipose tissue and determined that >50% of significant adipose tissue cisSNPs were also significant in blood. This is similar to the overlap we detected for cerebellum and temporal cortex, though two brain regions are more likely to have similar eQTL profiles than two different tissues.