Methylation QTLs (mQTLs) in the developing brain and their enrichment in schizophrenia-associated genomic regions

Our study looking at genetic influences on DNA methylation in the developing human brain was published online today in Nature Neuroscience. The study, led by Dr Eilis Hannon, identified >16,000 fetal brain mQTLs which were primarily cis-acting, enriched in regulatory chromatin domains and transcription factor binding sites, and showed substantial overlap with genetic variants that are also associated with gene expression in the brain. Of note, fetal brain mQTLs were enriched amongst risk loci identified in a recent large-scale genome-wide association study (GWAS) of schizophrenia, a severe psychiatric disorder with a hypothesized neurodevelopmental component. Our data show that mQTLs can be used to refine GWAS loci through the identification of discrete sites of variable fetal brain methylation associated with disease-associated risk variants. Our data is freely available to the wider research community via an online database