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

Expression quantitative trait loci (eQTLs) are genomic regions that regulate gene expression. Here the authors provide a publicly available data set of exon-level eQTLs across the human brain. This includes many genome-wide association study (GWAS) hits for neurological and psychiatric disorders. Ge...

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Veröffentlicht in:Nature neuroscience Jg. 17; H. 10; S. 1418 - 1428
Hauptverfasser: 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
Format: Journal Article
Sprache:Englisch
Veröffentlicht: New York Nature Publishing Group US 01.10.2014
Nature Publishing Group
Schlagworte:
38/61
631/1647/2217/2218
631/208/205/2138
631/208/212/2019
631/378/2583
Adolescent
Adult
Aged
Aged, 80 and over
Animal Genetics and Genomics
Behavioral Sciences
Biological Techniques
Biomedicine
Brain - anatomy & histology
Brain - metabolism
Brain mapping
Brain research
Datasets
Female
Gene expression
Gene Expression Profiling
Gene Expression Regulation
Genetic aspects
Genetic Association Studies
Genetic Predisposition to Disease
Genetic research
Genomes
Health risk assessment
Humans
Identification and classification
Male
Middle Aged
Nervous System Diseases - genetics
Nervous System Diseases - pathology
Neurobiology
Neurological disorders
Neurosciences
Oligonucleotide Array Sequence Analysis
Polymorphism, Single Nucleotide
Quality control
Quantitative Trait Loci
resource
Young Adult
United Kingdom > UK
ISSN:1097-6256, 1546-1726, 1546-1726
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Zusammenfassung:Expression quantitative trait loci (eQTLs) are genomic regions that regulate gene expression. Here the authors provide a publicly available data set of exon-level eQTLs across the human brain. This includes many genome-wide association study (GWAS) hits for neurological and psychiatric disorders. 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.
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AUTHOR CONTRIBUTIONS: A.R.: STATISTICAL and computer analysis, data display, web tool implementation and manuscript drafting; D.T.: laboratory work and analysis, manuscript revision; S.G.: manuscript revision and web tool implementation; V.V.: web tool implementation; C.S.: neuropathological characterization; R.W.: brain dissection and documentation; T.D.: copy number variant (CNV) analysis; L.C.: supervision of CNV analysis; R.d.S.: study design; M.R.C.: data accrual for NABEC and manuscript revision; A.B.S.: data accrual for NABEC and manuscript revision; J.H.: study design, funding acquisition and manuscript revision; M.R.: study design, funding acquisition and manuscript drafting and revision; M.E.W.: statistical analysis, study design, funding acquisition and manuscript drafting and revision.
Full lists of members and affiliations appear at the end of the paper.
ISSN:1097-6256
1546-1726
1546-1726
DOI:10.1038/nn.3801