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Widespread methylation quantitative trait loci and their role in schizophrenia risk

By Kira A Perzel Mandell, Nicholas J. Eagles, Richard Wilton, Amanda J. Price, Stephen A. Semick, Leonardo Collado-Torres, Ran Tao, Shizhong Han, Alexander S. Szalay, Thomas M. Hyde, Joel E Kleinman, Daniel R Weinberger, Andrew E. Jaffe

Posted 24 Sep 2020
bioRxiv DOI: 10.1101/2020.09.24.311878

DNA methylation (DNAm) regulates gene expression and may represent gene-environment interactions. Using whole genome bisulfite sequencing, we surveyed DNAm in a large sample (n=344) of human brain tissues. We identify widespread genetic influence on local methylation levels throughout the genome, with 76% of SNPs and 38% of CpGs being part of methylation quantitative trait loci (meQTLs). These associations can further be clustered into regions that are differentially methylated by a given SNP, highlighting putative functional regions that explain much of the heritability associated with risk loci. Furthermore, some CpH sites associated with genetic variation. We have established a comprehensive, single base resolution view of association between genetic variation and genomic methylation, and implicate schizophrenia GWAS-associated variants as influencing the epigenetic plasticity of the brain. One-sentence summary Most genetic variants associated with DNA methylation levels, and implicated schizophrenia GWAS variants in the human brain. ### Competing Interest Statement The authors have declared no competing interest.

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