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.
QIMR Home Page
GenEpi Home Page
About GenEpi
Publications
Contacts
Research
Staff Index
Collaborators
Software Tools
Computing Resources
Studies
Search
GenEpi Intranet
PMID
22563384
TITLE
The Brisbane Systems Genetics Study: genetical genomics meets complex trait genetics.
ABSTRACT
There is growing evidence that genetic risk factors for common disease are caused by hereditary changes of gene regulation acting in complex pathways. Clearly understanding the molecular genetic relationships between genetic control of gene expression and its effect on complex diseases is essential. Here we describe the Brisbane Systems Genetics Study (BSGS), a family-based study that will be used to elucidate the genetic factors affecting gene expression and the role of gene regulation in mediating endophenotypes and complex diseases.BSGS comprises of a total of 962 individuals from 314 families, for which we have high-density genotype, gene expression and phenotypic data. Families consist of combinations of both monozygotic and dizygotic twin pairs, their siblings, and, for 72 families, both parents. A significant advantage of the inclusion of parents is improved power to disentangle environmental, additive genetic and non-additive genetic effects of gene expression and measured phenotypes. Furthermore, it allows for the estimation of parent-of-origin effects, something that has not previously been systematically investigated in human genetical genomics studies. Measured phenotypes available within the BSGS include blood phenotypes and biochemical traits measured from components of the tissue sample in which transcription levels are determined, providing an ideal test case for systems genetics approaches.We report results from an expression quantitative trait loci (eQTL) analysis using 862 individuals from BSGS to test for associations between expression levels of 17,926 probes and 528,509 SNP genotypes. At a study wide significance level approximately 15,000 associations were observed between expression levels and SNP genotypes. These associations corresponded to a total of 2,081 expression quantitative trait loci (eQTL) involving 1,503 probes. The majority of identified eQTL (87%) were located within cis-regions.
DATE PUBLISHED
2012
HISTORY
PUBSTATUS PUBSTATUSDATE
received 2011/11/24
accepted 2012/03/16
epublish 2012/04/26
entrez 2012/05/08 06:00
pubmed 2012/05/09 06:00
medline 2012/09/18 06:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Powell JE Powell Joseph E JE University of Queensland Diamantina Institute, University of Queensland, Princess Alexandra Hospital, Brisbane, Queensland, Australia. joseph.powell@uq.edu.au
Henders AK Henders Anjali K AK
McRae AF McRae Allan F AF
Caracella A Caracella Anthony A
Smith S Smith Sara S
Wright MJ Wright Margaret J MJ
Whitfield JB Whitfield John B JB
Dermitzakis ET Dermitzakis Emmanouil T ET
Martin NG Martin Nicholas G NG
Visscher PM Visscher Peter M PM
Montgomery GW Montgomery Grant W GW
INVESTIGATORS
JOURNAL
VOLUME: 7
ISSUE: 4
TITLE: PloS one
ISOABBREVIATION: PLoS ONE
YEAR: 2012
MONTH:
DAY:
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Internet
ISSN:
ISSNTYPE:
MEDLINE JOURNAL
MEDLINETA: PLoS One
COUNTRY: United States
ISSNLINKING: 1932-6203
NLMUNIQUEID: 101285081
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
Research Support, Non-U.S. Gov't
COMMENTS AND CORRECTIONS
REFTYPE REFSOURCE REFPMID NOTE
Cites PLoS Genet. 2010 Apr;6(4):e1000888 20369019
Cites Am J Hum Genet. 2010 Jan;86(1):88-92 20045101
Cites PLoS Genet. 2010 Jun;6(6):e1000976 20532202
Cites Nature. 2010 Sep 2;467(7311):52-8 20811451
Cites PLoS Genet. 2011;7(2):e1002003 21304890
Cites Nat Genet. 2011 Jun;43(6):561-4 21572415
Cites Nat Rev Genet. 2011 Apr;12(4):277-82 21386863
Cites PLoS Genet. 2011 Feb;7(2):e1001317 21383966
Cites Nature. 2011 Jun 16;474(7351):307-17 21677747
Cites Hum Mol Genet. 2011 Sep 15;20(18):3710-7 21665994
Cites Genome Res. 2012 Mar;22(3):456-66 22183966
Cites PLoS Genet. 2008 Oct;4(10):e1000214 18846210
Cites Nat Genet. 2000 Oct;26(2):151-7 11017069
Cites Twin Res. 2001 Feb;4(1):48-56 11665325
Cites Nat Genet. 2002 Jan;30(1):97-101 11731797
Cites Theor Popul Biol. 2001 Nov;60(3):155-66 11855950
Cites Bioinformatics. 2003 Jan 22;19(2):185-93 12538238
Cites Eur J Hum Genet. 2003 Nov;11(11):845-50 14571269
Cites Methods. 2003 Dec;31(4):265-73 14597310
Cites Twin Res. 2003 Oct;6(5):354-60 14624719
Cites J Hum Genet. 2004;49(5):227-31 15362566
Cites Proc Natl Acad Sci U S A. 1987 Apr;84(8):2363-7 3470801
Cites Melanoma Res. 1996 Apr;6(2):155-65 8791274
Cites Genet Epidemiol. 1999;16(1):40-53 9915566
Cites Nat Genet. 2005 Jul;37(7):710-7 15965475
Cites Genome Res. 2005 Jul;15(7):1007-14 15998913
Cites Mol Psychiatry. 2005 Nov;10(11):1045-55 16044170
Cites Clin Chim Acta. 2006 Dec;374(1-2):87-92 16828726
Cites Eur J Hum Genet. 2007 Jan;15(1):94-102 17063143
Cites Nat Genet. 2007 Feb;39(2):226-31 17206142
Cites Am J Hum Genet. 2007 Mar;80(3):502-9 17273971
Cites Hypertension. 2007 Apr;49(4):832-8 17325240
Cites Genetics. 2007 Apr;175(4):1607-13 17237506
Cites PLoS One. 2007;2(7):e622 17637838
Cites Nature. 2007 Jul 26;448(7152):470-3 17611496
Cites Nat Genet. 2007 Oct;39(10):1217-24 17873874
Cites Nat Genet. 2007 Oct;39(10):1202-7 17873877
Cites Am J Hum Genet. 2007 Nov;81(5):913-26 17924335
Cites Nat Genet. 2007 Dec;39(12):1494-9 17982457
Cites Mol Psychiatry. 2008 Mar;13(3):233-8 18285755
Cites Nature. 2008 Mar 27;452(7186):423-8 18344981
Cites Nature. 2008 Mar 27;452(7186):429-35 18344982
Cites Circulation. 2008 Jul 15;118(3):247-57 18591442
Cites PLoS Genet. 2008 Oct;4(10):e1000232 18949031
Cites Nature. 2008 Nov 6;456(7218):18-21 18987709
Cites PLoS Genet. 2008 Nov;4(11):e1000287 19043577
Cites Nature. 2008 Dec 11;456(7223):728-31 19079049
Cites Am J Hum Genet. 2009 Jan;84(1):60-5 19084217
Cites Nat Genet. 2008 Sep;40(9):1107-12 19165925
Cites Proc Natl Acad Sci U S A. 2009 Jun 9;106(23):9362-7 19474294
Cites Nat Genet. 2009 Aug;41(8):915-9 19578365
Cites Nat Rev Genet. 2009 Sep;10(9):595-604 19636342
Cites Science. 2009 Sep 4;325(5945):1246-50 19644074
Cites Nature. 2009 Oct 8;461(7265):747-53 19812666
Cites Nat Genet. 2009 Nov;41(11):1173-5 19820699
Cites Am J Hum Genet. 2009 Nov;85(5):745-9 19853236
Cites Am J Hum Genet. 2009 Nov;85(5):750-5 19896111
Cites Nat Genet. 2010 Jan;42(1):62-7 19966804
Cites PLoS One. 2010;5(5):e10693 20502693
GRANTS
GENERAL NOTE
KEYWORDS
MESH HEADINGS
DESCRIPTORNAME QUALIFIERNAME
Female
Gene Expression
Genome-Wide Association Study
Genomics
Genotype
Humans
Male
Phenotype
Polymorphism, Single Nucleotide
Quantitative Trait Loci
Transcription Initiation Site
Twins, Dizygotic genetics
Twins, Monozygotic genetics
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
OTHER ID's
OTHERID SOURCE
PMC3338511 NLM
Designed by: GenEpi IT
Maintained by: GenEpi IT
Feedback: webmaster
Copyright © 2007 QIMR
For more information Contact Us
epiit@qimr.edu.au
Last Modified: Oct 15 2007