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

Ramasamy, Adaikalavan, Trabzuni, Daniah, Guelfi, Sebastian, Varghese, Vibin, Smith, Colin, Walker, Robert, De, Tisham, Coin, Lachlan, de Silva, Rohan, Cookson, Mark R., Singleton, Andrew B., Hardy, John, Ryten, Mina and Weale, Michael E. (2014) Genetic variability in the regulation of gene expression in ten regions of the human brain. Nature Neuroscience, 17 10: 1418-1428. doi:10.1038/nn.3801

Author Ramasamy, Adaikalavan
Trabzuni, Daniah
Guelfi, Sebastian
Varghese, Vibin
Smith, Colin
Walker, Robert
De, Tisham
Coin, Lachlan
de Silva, Rohan
Cookson, Mark R.
Singleton, Andrew B.
Hardy, John
Ryten, Mina
Weale, Michael E.
Title Genetic variability in the regulation of gene expression in ten regions of the human brain
Journal name Nature Neuroscience   Check publisher's open access policy
ISSN 1097-6256
Publication date 2014-10-01
Year available 2014
Sub-type Article (original research)
DOI 10.1038/nn.3801
Open Access Status Not yet assessed
Volume 17
Issue 10
Start page 1418
End page 1428
Total pages 11
Place of publication New York, NY, United States
Publisher Nature Publishing
Language eng
Subject 2800 Neuroscience
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 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.
Keyword Genome-Wide Association
Human Prefrontal Cortex
Common Variants
Q-Index Code C1
Q-Index Status Confirmed Code
Grant ID G0901254
Z01 AG000947
P30 AG19610
P30 AG019610
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2015 Collection
Institute for Molecular Bioscience - Publications
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