Germ-line genetic control of gene expression occurs via expression quantitative trait loci (eQTLs). We present a large, exon-specific eQTL data set covering ten human brain regions. We found that cis-eQTL signals (within 1 Mb of their target gene) were numerous, and many acted heterogeneously among regions and exons. Co-regulation analysis of shared eQTL signals produced well-defined modules of region-specific co-regulated genes, in contrast to standard coexpression analysis of the same samples. We report cis-eQTL signals for 23.1% of catalogued genome-wide association study hits for adult-onset neurological disorders. The data set is publicly available via public data repositories and via http://www.braineac.org/. Our study increases our understanding of the regulation of gene expression in the human brain and will be of value to others pursuing functional follow-up of disease-associated variants.
Pubmed ID: 25174004 RIS Download
Mesh terms: Adolescent | Adult | Aged | Aged, 80 and over | Brain | Female | Gene Expression Profiling | Gene Expression Regulation | Genetic Association Studies | Genetic Predisposition to Disease | Humans | Male | Middle Aged | Nervous System Diseases | Oligonucleotide Array Sequence Analysis | Polymorphism, Single Nucleotide | Quantitative Trait Loci | Young Adult
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