Abundant Quantitative Trait Loci Exist for DNA Methylation and Gene Expression in Human Brain
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In this paper (Gibbs et al., 2010, PMID: 20485568) we describe a comprehensive assessment of the correlation between common genetic variability across the human genome, gene expression and DNA methylation, within human brain. We studied the cerebellum, frontal cortex, temporal cortex and pons regions of 150 individuals (600 tissue samples). In each tissue we assessed 27,578 DNA methylation sites and the expression level of 22,184 genes. Our research shows that DNA methylation and RNA expression patterns differ between brain regions. Further we show that DNA genotype is correlated with gene expression and DNA methylation, particularly when the genetic variation is close to the DNA methylation site or gene.