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Genetic variability in the regulation of gene expression in ten regions of the human brain.

Nature neuroscience | Nov 21, 2014

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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Associated grants

  • Agency: Medical Research Council, Id: G0501560
  • Agency: Medical Research Council, Id: G0802462
  • Agency: Medical Research Council, Id: MR/K01417X/1
  • Agency: Parkinson's UK, Id: G-0907
  • Agency: Medical Research Council, Id: G0901254
  • Agency: Medical Research Council, Id: MR/L016400/1
  • Agency: Intramural NIH HHS, Id: MC_G1000735
  • Agency: Medical Research Council, Id: Z01 AG000947
  • Agency: NIA NIH HHS, Id: 089698
  • Agency: Wellcome Trust, Id: P30 AG19610
  • Agency: NIA NIH HHS, Id: K-1212
  • Agency: Parkinson's UK, Id: P30 AG019610
  • Agency: NIA NIH HHS, Id:

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