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

UK Brain Expression Consortium, North Amer Brain Expression Consor, Adaikalavan Ramasamy, Daniah Trabzuni, Sebastian Guelfi, Vibin Varghese, Colin Smith, Robert Walker, Tisham De, Lachlan Coin, Rohan de Silva, Mark R. Cookson, Andrew B. Singleton, John Hardy, Mina Ryten*, Michael E. Weale

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)1418-1428
Number of pages11
JournalNature Neuroscience
Volume17
Issue number10
Early online date31 Aug 2014
DOIs
Publication statusPublished - 31 Oct 2014

Keywords

  • GENOME-WIDE ASSOCIATION
  • HUMAN PREFRONTAL CORTEX
  • ALZHEIMERS-DISEASE
  • SMOKING-BEHAVIOR
  • COMMON VARIANTS
  • LUNG-CANCER
  • SUSCEPTIBILITY
  • METAANALYSIS
  • LOCUS
  • CD2AP

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