Chunk #19 — Results — eQTL at a common inversion polymorphism on chromosome 17q21 — Identification of gene expression changes in fetal brain associated with neuropsychiatric traits
We additionally explored whether eQTLs identified in the adult human brain (dorsolateral prefrontal cortex) [49] that have been implicated in neuropsychiatric traits in a previous SMR study [45] are potentially also operating in the fetal brain. For four fetal eGenes, we observed strong linkage disequilibrium in our samples (r2 > 0.8) between the most significant fetal brain eQTL and the adult brain eQTL implicated in schizophrenia risk through SMR (Additional file 1: Table S10). In addition to CSPG4P11, which showed a significant SMR association with schizophrenia in the present study, these included CD46, encoding the CD46 complement regulatory protein, GOLGA2P7, encoding GOLGA2 pseudogene 2, and SLCO4C1, encoding Solute Carrier Organic Anion Transporter Family Member 4C1. There was no apparent overlap between adult brain eQTL implicated in neuroticism and eQTL regulating the fetal eGenes identified in this study.
