A genome-wide association study identifies genetic loci associated with specific lobar brain volumes

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dc.contributorHáskóli Íslandsen_US
dc.contributorUniversity of Icelanden_US
dc.contributor.authorvan der Lee, Sven J.
dc.contributor.authorKnol, Maria J.
dc.contributor.authorChauhan, Ganesh
dc.contributor.authorSatizabal, Claudia L.
dc.contributor.authorSmith, Albert Vernon
dc.contributor.authorHofer, Edith
dc.contributor.authorBis, Joshua C.
dc.contributor.authorHibar, Derrek P.
dc.contributor.authorHilal, Saima
dc.contributor.authorvan den Akker, Erik B.
dc.contributor.authorArfanakis, Konstantinos
dc.contributor.authorBernard, Manon
dc.contributor.authorYanek, Lisa R.
dc.contributor.authorAmin, Najaf
dc.contributor.authorCrivello, Fabrice
dc.contributor.authorCheung, Josh W.
dc.contributor.authorHarris, Tamara B.
dc.contributor.authorSaba, Yasaman
dc.contributor.authorLopez, Oscar L.
dc.contributor.authorLi, Shuo
dc.contributor.authorvan der Grond, Jeroen
dc.contributor.authorYu, Lei
dc.contributor.authorPaus, Tomas
dc.contributor.authorRoshchupkin, Gennady V.
dc.contributor.authorAmouyel, Philippe
dc.contributor.authorJahanshad, Neda
dc.contributor.authorTaylor, Kent D.
dc.contributor.authorYang, Qiong
dc.contributor.authorMathias, Rasika A.
dc.contributor.authorBoehringer, Stefan
dc.contributor.authorMazoyer, Bernard
dc.contributor.authorRice, Ken
dc.contributor.authorCheng, Ching Yu
dc.contributor.authorMaillard, Pauline
dc.contributor.authorvan Heemst, Diana
dc.contributor.authorWong, Tien Yin
dc.contributor.authorNiessen, Wiro J.
dc.contributor.authorBeiser, Alexa S.
dc.contributor.authorBeekman, Marian
dc.contributor.authorZhao, Wanting
dc.contributor.authorNyquist, Paul A.
dc.contributor.authorChen, Christopher
dc.contributor.authorLauner, Lenore J.
dc.contributor.authorPsaty, Bruce M.
dc.contributor.authorIkram, M. Kamran
dc.contributor.authorVernooij, Meike W.
dc.contributor.authorSchmidt, Helena
dc.contributor.authorPausova, Zdenka
dc.contributor.authorBecker, Diane M.
dc.contributor.authorDe Jager, Philip L.
dc.contributor.authorThompson, Paul M.
dc.contributor.authorvan Duijn, Cornelia M.
dc.contributor.authorBennett, David A.
dc.contributor.authorSlagboom, P. Eline
dc.contributor.authorSchmidt, Reinhold
dc.contributor.authorLongstreth, W. T.
dc.contributor.authorIkram, M. Arfan
dc.contributor.authorSeshadri, Sudha
dc.contributor.authorDebette, Stéphanie
dc.contributor.authorGudnason, Vilmundur
dc.contributor.authorAdams, Hieab H. H.
dc.contributor.authorDeCarli, Charles
dc.contributor.departmentLæknadeild (HÍ)en_US
dc.contributor.departmentFaculty of Medicine (UI)en_US
dc.contributor.schoolHeilbrigðisvísindasvið (HÍ)en_US
dc.contributor.schoolSchool of Health Sciences (UI)en_US
dc.date.accessioned2020-03-02T13:34:39Z
dc.date.available2020-03-02T13:34:39Z
dc.date.issued2019-08-02
dc.descriptionPublisher's version (útgefin grein).en_US
dc.description.abstractBrain lobar volumes are heritable but genetic studies are limited. We performed genome-wide association studies of frontal, occipital, parietal and temporal lobe volumes in 16,016 individuals, and replicated our findings in 8,789 individuals. We identified six genetic loci associated with specific lobar volumes independent of intracranial volume. Two loci, associated with occipital (6q22.32) and temporal lobe volume (12q14.3), were previously reported to associate with intracranial and hippocampal volume, respectively. We identified four loci previously unknown to affect brain volumes: 3q24 for parietal lobe volume, and 1q22, 4p16.3 and 14q23.1 for occipital lobe volume. The associated variants were located in regions enriched for histone modifications (DAAM1 and THBS3), or close to genes causing Mendelian brain-related diseases (ZIC4 and FGFRL1). No genetic overlap between lobar volumes and neurological or psychiatric diseases was observed. Our findings reveal part of the complex genetics underlying brain development and suggest a role for regulatory regions in determining brain volumes.en_US
dc.description.sponsorship23Laboratory of Epidemiology and Population Sciences, National Institute on Aging, Intramural Research Program, National Institutes of Health, Bethesda, MD 20892, USA. 24Research Unit-Genetic Epidemiology, Gottfried Schatz Research Centre for Cell Signaling, Metabolism and Aging, Molecular Biology and Biochemistry, Medical University of Graz, 8010 Graz, Austria. 25Department of Neurology, University of Pittsburgh, Pittsburgh, PA 15260, USA. 26Department of Biostatistics, School of Public Health, Boston University, Boston, MA 02118, USA. 27Department of Radiology, Leiden University Medical Center, Leiden 2333ZA, the Netherlands. 28Bloorview Research Institute, Holland Bloorview Kids Rehabilitation Hospital, Toronto M4G 1R8, Canada. 29Departments of Psychology and Psychiatry, University of Toronto, Toronto M5S 1A1, Canada.en_US
dc.description.versionPeer Revieweden_US
dc.format.extent285en_US
dc.identifier.citationvan der Lee, S.J., Knol, M.J., Chauhan, G. et al. A genome-wide association study identifies genetic loci associated with specific lobar brain volumes. Commun Biol 2, 285 (2019). https://doi.org/10.1038/s42003-019-0537-9en_US
dc.identifier.doi10.1038/s42003-019-0537-9
dc.identifier.issn2399-3642
dc.identifier.journalCommunications Biologyen_US
dc.identifier.urihttps://hdl.handle.net/20.500.11815/1566
dc.language.isoenen_US
dc.publisherSpringer Science and Business Media LLCen_US
dc.relation.ispartofseriesCommunications Biology;2(1)
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectBiomarkersen_US
dc.subjectGenome-wide association studiesen_US
dc.subjectNeurologyen_US
dc.subjectErfðarannsókniren_US
dc.subjectTaugasjúkdómaren_US
dc.subjectHeilinnen_US
dc.titleA genome-wide association study identifies genetic loci associated with specific lobar brain volumesen_US
dc.typeinfo:eu-repo/semantics/articleen_US
dcterms.licenseOpen Access. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.en_US

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