Genetic Epidemiology, Translational Neurogenomics, Psychiatric Genetics and Statistical Genetics Laboratories investigate the pattern of disease in families, particularly identical and non-identical twins, to assess the relative importance of genes and environment in a variety of important health problems.
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PMID
22183966
TITLE
Genetic control of gene expression in whole blood and lymphoblastoid cell lines is largely independent.
ABSTRACT
The degree to which the level of genetic variation for gene expression is shared across multiple tissues has important implications for research investigating the role of expression on the etiology of complex human traits and diseases. In the last few years, several studies have been published reporting the extent of overlap in expression quantitative trait loci (eQTL) identified in multiple tissues or cell types. Although these studies provide important information on the regulatory control of genes across tissues, their limited power means that they can typically only explain a small proportion of genetic variation for gene expression. Here, using expression data from monozygotic twins (MZ), we investigate the genetic control of gene expression in lymphoblastoid cell lines (LCL) and whole blood (WB). We estimate the genetic correlation that represents the combined effects of all causal loci across the whole genome and is a measure of the level of common genetic control of gene expression between the two RNA sources. Our results show that, when averaged across the genome, mean levels of genetic correlation for gene expression in LCL and WB samples are close to zero. We support our results with evidence from gene expression in an independent sample of LCL, T-cells, and fibroblasts. In addition, we provide evidence that housekeeping genes, which maintain basic cellular functions, are more likely to have high genetic correlations between the RNA sources than non-housekeeping genes, implying a relationship between the transcript function and the degree to which a gene has tissue-specific genetic regulatory control.
DATE PUBLISHED
2012 Mar
HISTORY
PUBSTATUS PUBSTATUSDATE
aheadofprint 2011/12/19
entrez 2011/12/21 06:00
pubmed 2011/12/21 06:00
medline 2012/07/10 06:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Powell JE Powell Joseph E JE Queensland Institute of Medical Research, Herston, Brisbane, QLD 4006, Australia. joseph.powell@qimr.edu.au
Henders AK Henders Anjali K AK
McRae AF McRae Allan F AF
Wright MJ Wright Margaret J MJ
Martin NG Martin Nicholas G NG
Dermitzakis ET Dermitzakis Emmanouil T ET
Montgomery GW Montgomery Grant W GW
Visscher PM Visscher Peter M PM
INVESTIGATORS
JOURNAL
VOLUME: 22
ISSUE: 3
TITLE: Genome research
ISOABBREVIATION: Genome Res.
YEAR: 2012
MONTH: Mar
DAY:
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Internet
ISSN:
ISSNTYPE:
MEDLINE JOURNAL
MEDLINETA: Genome Res
COUNTRY: United States
ISSNLINKING: 1088-9051
NLMUNIQUEID: 9518021
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
Research Support, Non-U.S. Gov't
Twin Study
COMMENTS AND CORRECTIONS
REFTYPE REFSOURCE REFPMID NOTE
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GRANTS
GENERAL NOTE
KEYWORDS
MESH HEADINGS
DESCRIPTORNAME QUALIFIERNAME
Blood Cells metabolism
Female metabolism
Gene Expression Profiling metabolism
Gene Expression Regulation metabolism
Genes, Essential metabolism
Genome-Wide Association Study metabolism
Humans metabolism
Lymphoid Progenitor Cells metabolism
Male metabolism
Organ Specificity genetics
Quantitative Trait Loci genetics
RNA, Messenger metabolism
Sex Factors metabolism
Twins, Monozygotic genetics
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
REGISTRYNUMBER NAMEOFSUBSTANCE
0 RNA, Messenger
OTHER ID's
OTHERID SOURCE
PMC3290781 NLM