Genetic influences on gene regulation that are active during human prenatal brain development plausibly impact upon a variety of postnatal, brain-related phenotypes. For example, we have previously shown that genetic variants associated with DNA methylation in the human fetal brain are enriched among variants associated with schizophrenia [10], a severe psychiatric disorder with a hypothesized early neurodevelopmental component [11, 12]. Common genetic variants associated with schizophrenia are also reported to be enriched within open chromatin (an index of regulatory regions) in the developing human cerebral cortex [13], and there are reports of association between gene expression in fetal brain and schizophrenia risk alleles at individual loci, e.g., [6, 14]. However, apart from one previous investigation that included a relatively small subset of fetal brains (n = 38) [15], no study has explored genetic effects on gene expression in the human prenatal brain on a genome-wide scale.
