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

van der Lee, Sven J.; Knol, Maria J.; Chauhan, Ganesh; Satizabal, Claudia L.; Smith, Albert Vernon; Hofer, Edith; Bis, Joshua C.; Hibar, Derrek P.; Hilal, Saima; van den Akker, Erik B.; Arfanakis, Konstantinos; Bernard, Manon; Yanek, Lisa R.; Amin, Najaf; Crivello, Fabrice; Cheung, Josh W.; Harris, Tamara B.; Saba, Yasaman; Lopez, Oscar L.; Li, Shuo; van der Grond, Jeroen; Yu, Lei; Paus, Tomas; Roshchupkin, Gennady V.; Amouyel, Philippe; Jahanshad, Neda; Taylor, Kent D.; Yang, Qiong; Mathias, Rasika A.; Boehringer, Stefan; Mazoyer, Bernard; Rice, Ken; Cheng, Ching Yu; Maillard, Pauline; van Heemst, Diana; Wong, Tien Yin; Niessen, Wiro J.; Beiser, Alexa S.; Beekman, Marian; Zhao, Wanting; Nyquist, Paul A.; Chen, Christopher; Launer, Lenore J.; Psaty, Bruce M.; Ikram, M. Kamran; Vernooij, Meike W.; Schmidt, Helena; Pausova, Zdenka; Becker, Diane M.; De Jager, Philip L.; Thompson, Paul M.; van Duijn, Cornelia M.; Bennett, David A.; Slagboom, P. Eline; Schmidt, Reinhold; Longstreth, W. T.; Ikram, M. Arfan; Seshadri, Sudha; Debette, Stéphanie; Gudnason, Vilmundur; Adams, Hieab H. H.; DeCarli, Charles

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dc.contributor	Háskóli Íslands
dc.contributor	University of Iceland
dc.contributor.author	van der Lee, Sven J.
dc.contributor.author	Knol, Maria J.
dc.contributor.author	Chauhan, Ganesh
dc.contributor.author	Satizabal, Claudia L.
dc.contributor.author	orcid.org/0000-0003-1942-5845 Smith, Albert Vernon
dc.contributor.author	Hofer, Edith
dc.contributor.author	Bis, Joshua C.
dc.contributor.author	Hibar, Derrek P.
dc.contributor.author	Hilal, Saima
dc.contributor.author	van den Akker, Erik B.
dc.contributor.author	Arfanakis, Konstantinos
dc.contributor.author	Bernard, Manon
dc.contributor.author	Yanek, Lisa R.
dc.contributor.author	Amin, Najaf
dc.contributor.author	Crivello, Fabrice
dc.contributor.author	Cheung, Josh W.
dc.contributor.author	Harris, Tamara B.
dc.contributor.author	Saba, Yasaman
dc.contributor.author	Lopez, Oscar L.
dc.contributor.author	Li, Shuo
dc.contributor.author	van der Grond, Jeroen
dc.contributor.author	Yu, Lei
dc.contributor.author	Paus, Tomas
dc.contributor.author	Roshchupkin, Gennady V.
dc.contributor.author	Amouyel, Philippe
dc.contributor.author	Jahanshad, Neda
dc.contributor.author	Taylor, Kent D.
dc.contributor.author	Yang, Qiong
dc.contributor.author	Mathias, Rasika A.
dc.contributor.author	Boehringer, Stefan
dc.contributor.author	Mazoyer, Bernard
dc.contributor.author	Rice, Ken
dc.contributor.author	Cheng, Ching Yu
dc.contributor.author	Maillard, Pauline
dc.contributor.author	van Heemst, Diana
dc.contributor.author	Wong, Tien Yin
dc.contributor.author	Niessen, Wiro J.
dc.contributor.author	Beiser, Alexa S.
dc.contributor.author	Beekman, Marian
dc.contributor.author	Zhao, Wanting
dc.contributor.author	Nyquist, Paul A.
dc.contributor.author	Chen, Christopher
dc.contributor.author	Launer, Lenore J.
dc.contributor.author	Psaty, Bruce M.
dc.contributor.author	Ikram, M. Kamran
dc.contributor.author	Vernooij, Meike W.
dc.contributor.author	Schmidt, Helena
dc.contributor.author	Pausova, Zdenka
dc.contributor.author	Becker, Diane M.
dc.contributor.author	De Jager, Philip L.
dc.contributor.author	Thompson, Paul M.
dc.contributor.author	van Duijn, Cornelia M.
dc.contributor.author	Bennett, David A.
dc.contributor.author	Slagboom, P. Eline
dc.contributor.author	Schmidt, Reinhold
dc.contributor.author	Longstreth, W. T.
dc.contributor.author	Ikram, M. Arfan
dc.contributor.author	Seshadri, Sudha
dc.contributor.author	Debette, Stéphanie
dc.contributor.author	orcid.org/0000-0001-5696-0084 Gudnason, Vilmundur
dc.contributor.author	Adams, Hieab H. H.
dc.contributor.author	DeCarli, Charles
dc.date.accessioned	2020-03-02T13:34:39Z
dc.date.available	2020-03-02T13:34:39Z
dc.date.issued	2019-08-02
dc.identifier.citation	van 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/s42003-019-0537-9
dc.identifier.issn	2399-3642
dc.identifier.uri	https://hdl.handle.net/20.500.11815/1566
dc.description	Publisher's version (útgefin grein).
dc.description.abstract	Brain 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.
dc.description.sponsorship	23Laboratory 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.
dc.format.extent	285
dc.language.iso	en
dc.publisher	Springer Science and Business Media LLC
dc.relation.ispartofseries	Communications Biology;2(1)
dc.rights	info:eu-repo/semantics/openAccess
dc.subject	Biomarkers
dc.subject	Genome-wide association studies
dc.subject	Neurology
dc.subject	Erfðarannsóknir
dc.subject	Taugasjúkdómar
dc.subject	Heilinn
dc.title	A genome-wide association study identifies genetic loci associated with specific lobar brain volumes
dc.type	info:eu-repo/semantics/article
dcterms.license	Open 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/.
dc.description.version	Peer Reviewed
dc.identifier.journal	Communications Biology
dc.identifier.doi	10.1038/s42003-019-0537-9
dc.contributor.department	Læknadeild (HÍ)
dc.contributor.department	Faculty of Medicine (UI)
dc.contributor.school	Heilbrigðisvísindasvið (HÍ)
dc.contributor.school	School of Health Sciences (UI)