Overlap of expression Quantitative Trait Loci (eQTL) in human brain and blood

McKenzie, Marna, Henders, Anjali K., Caracella, Anthony, Wray, Naomi R. and Powell, Joseph E. (2014) Overlap of expression Quantitative Trait Loci (eQTL) in human brain and blood. BMC Medical Genomics, 7 1: 1-11. doi:10.1186/1755-8794-7-31

Author McKenzie, Marna
Henders, Anjali K.
Caracella, Anthony
Wray, Naomi R.
Powell, Joseph E.
Title Overlap of expression Quantitative Trait Loci (eQTL) in human brain and blood
Journal name BMC Medical Genomics   Check publisher's open access policy
ISSN 1755-8794
Publication date 2014-06-03
Year available 2014
Sub-type Article (original research)
DOI 10.1186/1755-8794-7-31
Open Access Status DOI
Volume 7
Issue 1
Start page 1
End page 11
Total pages 11
Place of publication London United Kingdom
Publisher BioMed Central
Language eng
Formatted abstract
Background: Expression quantitative trait loci (eQTL) are genomic regions regulating RNA transcript expression levels. Genome-wide Association Studies (GWAS) have identified many variants, often in non-coding regions, with unknown functions and eQTL provide a possible mechanism by which these variants may influence observable phenotypes. Limited access and availability of tissues such as brain has led to the use of blood as a substitute for eQTL analyses.

Methods: Here, we evaluate the overlap of eQTL reported in published studies conducted in blood and brain tissues to assess the utility of blood as an alternative to brain tissue in the study of neurological and psychiatric conditions. Expression QTL results from eight published brain studies were compared to blood eQTL identified in from a meta-analysis involving 5,311 individuals. We accounted for differences in SNP platforms and study design by using SNP proxies in high linkage disequilibrium with reported eQTL. The degree of overlap between studies was calculated by ascertaining if an eQTL identified in one study was also identified in the other study.

Results: The percentage of eQTL overlapping for brain and blood expression after adjusting for differences in sample size ranged from 13 - 23% (mean 19.2%). Amongst pairs of brain studies eQTL overlap ranged from 0 - 35%, with higher degrees of overlap found for studies using expression data collected from the same brain region.

Conclusion: Our results suggest that whenever possible tissue specific to the pathophysiology of the disease being studied should be used for transcription analysis.
Keyword Genetics & Heredity
Genetics & Heredity
Q-Index Code C1
Q-Index Status Confirmed Code
Grant ID FT0991360
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Queensland Brain Institute Publications
Official 2015 Collection
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Citation counts: TR Web of Science Citation Count  Cited 16 times in Thomson Reuters Web of Science Article | Citations
Scopus Citation Count Cited 13 times in Scopus Article | Citations
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Created: Tue, 15 Jul 2014, 10:29:44 EST by System User on behalf of Queensland Brain Institute