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


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2014-10

AUTHORS

Adaikalavan Ramasamy, Daniah Trabzuni, Sebastian Guelfi, Vibin Varghese, Colin Smith, Robert Walker, Tisham De, Brain Expression Consortium, John Hardy, Mina Ryten, Michael E Weale, Paola Forabosco, North American Brain Expression Consortium, Sampath Arepalli, Mark R Cookson, Allissa Dillman, J Raphael Gibbs, Dena G Hernandez, Michael A Nalls, Andrew B Singleton, Bryan Traynor, Marcel van der Brug, Luigi Ferrucci, Robert Johnson, Ronald Zielke, Dan L Longo, Juan Troncoso, Alan Zonderman, Lachlan Coin, Rohan de Silva

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. More... »

PAGES

1418-1428

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  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/nn.3801

    DOI

    http://dx.doi.org/10.1038/nn.3801

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1052242395

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/25174004


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