Title |
Genetic variability in the regulation of gene expression in ten regions of the human brain
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Published in |
Nature Neuroscience, August 2014
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DOI | 10.1038/nn.3801 |
Pubmed ID | |
Authors |
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 |
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. |
X Demographics
Geographical breakdown
Country | Count | As % |
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United States | 8 | 31% |
United Kingdom | 2 | 8% |
Netherlands | 2 | 8% |
Canada | 1 | 4% |
Germany | 1 | 4% |
Ireland | 1 | 4% |
Unknown | 11 | 42% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 15 | 58% |
Scientists | 10 | 38% |
Science communicators (journalists, bloggers, editors) | 1 | 4% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 12 | 2% |
United Kingdom | 5 | 1% |
Italy | 2 | <1% |
Netherlands | 1 | <1% |
France | 1 | <1% |
Hungary | 1 | <1% |
Brazil | 1 | <1% |
Colombia | 1 | <1% |
Korea, Republic of | 1 | <1% |
Other | 4 | <1% |
Unknown | 470 | 94% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 128 | 26% |
Researcher | 110 | 22% |
Student > Bachelor | 33 | 7% |
Student > Master | 31 | 6% |
Professor | 30 | 6% |
Other | 98 | 20% |
Unknown | 69 | 14% |
Readers by discipline | Count | As % |
---|---|---|
Agricultural and Biological Sciences | 145 | 29% |
Biochemistry, Genetics and Molecular Biology | 93 | 19% |
Neuroscience | 55 | 11% |
Medicine and Dentistry | 42 | 8% |
Computer Science | 17 | 3% |
Other | 49 | 10% |
Unknown | 98 | 20% |