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
22500773
TITLE
Altered structural brain connectivity in healthy carriers of the autism risk gene, CNTNAP2.
ABSTRACT
Recently, carriers of a common variant in the autism risk gene, CNTNAP2, were found to have altered functional brain connectivity using functional MRI. Here, we scanned 328 young adults with high-field (4-Tesla) diffusion imaging, to test the hypothesis that carriers of this gene variant would have altered structural brain connectivity. All participants (209 women, 119 men, age: 23.4±2.17 SD years) were scanned with 105-gradient high-angular-resolution diffusion imaging (HARDI) at 4 Tesla. After performing a whole-brain fiber tractography using the full angular resolution of the diffusion scans, 70 cortical surface-based regions of interest were created from each individual's co-registered anatomical data to compute graph metrics for all pairs of cortical regions. In graph theory analyses, subjects homozygous for the risk allele (CC) had lower characteristic path length, greater small-worldness and global efficiency in whole-brain analyses, and lower [corrected] eccentricity (maximum path length) in 60 of the 70 nodes in regional analyses. These results were not reducible to differences in more commonly studied traits such as fiber density or fractional anisotropy. This is the first study that links graph theory metrics of brain structural connectivity to a common genetic variant linked with autism and will help us understand the neurobiology of the circuits implicated in the risk for autism.
DATE PUBLISHED
2011
HISTORY
PUBSTATUS PUBSTATUSDATE
entrez 2012/04/17 06:00
pubmed 2011/01/01 00:00
medline 2013/01/26 06:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Dennis EL Dennis Emily L EL Laboratory of Neuro Imaging, Ahmanson Lovelace Brain Mapping Center, UCLA School of Medicine, Los Angeles, California 90095-7334, USA.
Jahanshad N Jahanshad Neda N
Rudie JD Rudie Jeffrey D JD
Brown JA Brown Jesse A JA
Johnson K Johnson Kori K
McMahon KL McMahon Katie L KL
de Zubicaray GI de Zubicaray Greig I GI
Montgomery G Montgomery Grant G
Martin NG Martin Nicholas G NG
Wright MJ Wright Margaret J MJ
Bookheimer SY Bookheimer Susan Y SY
Dapretto M Dapretto Mirella M
Toga AW Toga Arthur W AW
Thompson PM Thompson Paul M PM
INVESTIGATORS
JOURNAL
VOLUME: 1
ISSUE: 6
TITLE: Brain connectivity
ISOABBREVIATION: Brain Connect
YEAR: 2011
MONTH:
DAY:
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Internet
ISSN: 2158-0022
ISSNTYPE: Electronic
MEDLINE JOURNAL
MEDLINETA: Brain Connect
COUNTRY: United States
ISSNLINKING:
NLMUNIQUEID: 101550313
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Twin Study
COMMENTS AND CORRECTIONS
REFTYPE REFSOURCE REFPMID NOTE
Cites Science. 2010 Sep 10;329(5997):1358-61 20829489
Cites Magn Reson Med. 1999 Sep;42(3):515-25 10467296
Cites Proc Natl Acad Sci U S A. 2010 Nov 2;107(44):19067-72 20956328
Cites Sci Transl Med. 2010 Nov 3;2(56):56ra80 21048216
Cites Conf Proc IEEE Eng Med Biol Soc. 2010;2010:1730-3 21096408
Cites Neuroimage. 2011 Jan 15;54(2):1262-79 20850551
Cites Neuroimage. 2011 Feb 1;54(3):2308-17 20950689
Cites Annu Rev Clin Psychol. 2011;7:113-40 21128784
Cites Biol Psychiatry. 2011 May 1;69(9):825-31 21193173
Cites J Neurosci. 2011 May 4;31(18):6764-70 21543606
Cites Med Image Anal. 2011 Aug;15(4):414-25 21376655
Cites Cell. 2011 Sep 30;147(1):235-46 21962519
Cites Proc Natl Acad Sci U S A. 2012 Apr 3;109(14):E851-9 22232660
Cites Neuropsychopharmacology. 2012 Aug;37(9):2012-9 22510721
Cites Neuron. 1999 Dec;24(4):1037-47 10624965
Cites Behav Genet. 2000 Jul;30(4):311-9 11206086
Cites Neuroreport. 2001 Jun 13;12(8):1677-81 11409738
Cites Phys Rev Lett. 2001 Nov 5;87(19):198701 11690461
Cites Nat Neurosci. 2001 Dec;4(12):1253-8 11694885
Cites J Cell Biol. 2003 Sep 15;162(6):1149-60 12963709
Cites Br J Psychol. 1970 Aug;61(3):303-21 5457503
Cites Neuropsychologia. 1990;28(6):517-27 2203993
Cites J Comput Assist Tomogr. 1998 Mar-Apr;22(2):324-33 9530404
Cites Science. 1998 May 8;280(5365):902-5 9572734
Cites Nature. 1998 Jun 4;393(6684):440-2 9623998
Cites Hum Mol Genet. 2010 Oct 15;19(20):4072-82 20663923
Cites Trends Cogn Sci. 2004 Sep;8(9):418-25 15350243
Cites N Engl J Med. 2006 Mar 30;354(13):1370-7 16571880
Cites Neuroimage. 2006 Jul 1;31(3):968-80 16530430
Cites Nat Genet. 2007 Mar;39(3):319-28 17322880
Cites Cereb Cortex. 2007 Apr;17(4):951-61 16772313
Cites Inf Process Med Imaging. 2005;19:493-503 17354720
Cites Proc Natl Acad Sci U S A. 2007 Nov 6;104(45):17849-54 17978184
Cites Am J Hum Genet. 2008 Jan;82(1):150-9 18179893
Cites Am J Hum Genet. 2008 Jan;82(1):160-4 18179894
Cites Am J Hum Genet. 2008 Jan;82(1):165-73 18179895
Cites Neuroimage. 2008 Apr 1;40(2):712-8 18255317
Cites Genetics. 2008 Mar;178(3):1709-23 18385116
Cites Cereb Cortex. 2008 Aug;18(8):1737-47 18234689
Cites Mol Psychiatry. 2008 Nov;13(11):1054-9 17925794
Cites N Engl J Med. 2008 Nov 27;359(22):2337-45 18987363
Cites Proc Natl Acad Sci U S A. 2009 Feb 10;106(6):2035-40 19188601
Cites Nat Rev Neurosci. 2009 Mar;10(3):186-98 19190637
Cites Neuroimage. 2010 Apr 15;50(3):970-83 20035887
Cites Med Image Comput Comput Assist Interv. 2009;12(Pt 1):967-74 20426082
Cites Med Image Comput Comput Assist Interv. 2009;12(Pt 2):506-13 20426150
Cites Neuroimage. 2010 Aug 15;52(2):455-69 20430102
Cites Neuroimage. 2010 Sep;52(3):1059-69 19819337
Cites Magn Reson Med. 2010 Aug;64(2):554-66 20535807
Cites Neuroimage. 2010 Nov 15;53(3):1030-42 20176116
ErratumIn Brain Connect. 2012;2(6):356 20176116
GRANTS
GRANTID AGENCY COUNTRY
EB007813 NIBIB NIH HHS United States
EB008281 NIBIB NIH HHS United States
P41 RR013642 NCRR NIH HHS United States
P41 RR013642 NCRR NIH HHS United States
R01 AG040060 NIA NIH HHS United States
R01 EB007813 NIBIB NIH HHS United States
R01 EB008281 NIBIB NIH HHS United States
R01 EB008432 NIBIB NIH HHS United States
R01 EB008432 NIBIB NIH HHS United States
R01 HD050735 NICHD NIH HHS United States
R01 HD050735 NICHD NIH HHS United States
T15 LM007356 NLM NIH HHS United States
T15 LM07356 NLM NIH HHS United States
T32 GM008042 NIGMS NIH HHS United States
U01 MH093765 NIMH NIH HHS United States
U01 MH093765 NIMH NIH HHS United States
GENERAL NOTE
KEYWORDS
MESH HEADINGS
DESCRIPTORNAME QUALIFIERNAME
Adult
Autistic Disorder physiopathology
Brain physiology
Diffusion Tensor Imaging methods
Diseases in Twins physiopathology
Female physiopathology
Heterozygote physiopathology
Humans physiopathology
Male physiopathology
Membrane Proteins genetics
Nerve Net physiology
Nerve Tissue Proteins genetics
Risk Factors genetics
Young Adult genetics
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
REGISTRYNUMBER NAMEOFSUBSTANCE
0 CNTNAP2 protein, human
0 Membrane Proteins
0 Nerve Tissue Proteins
OTHER ID's
OTHERID SOURCE
NIHMS392946 NLM
PMC3420970 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