The reported results have several important implications for the genetics of human brain gene expression: First, despite technical challenges of gene expression measurements in post-mortem brain tissue [50], ∼70% of the transcriptome can be reliably detected in >75% of the subjects across two brain regions and different disease pathologies. Second, although there is significant contribution from technical covariates, genetic factors account for a substantial proportion of the variance in brain gene expression levels. We estimate that genetic factors explain an average 3% (range: 0–85%) of the variance in human cerebellar gene expression overall, and 18% (range: 8–85%) of the variance for the top cis-regulated transcripts. These estimates show remarkable similarity to those from other eQTL studies, such as a large, family-based lymphocyte eQTL, where cis eQTLs had an overall median effect size of 1.8% and significant eQTLs accounted for 24.6% of the variance in expression [16]. Similarly, significant cisSNPs explained 2–90% of expression variance in a liver eGWAS [23].
