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

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


Title: A genome-wide association study identifies genetic loci associated with specific lobar brain volumes
Author: van der Lee, Sven J.
Knol, Maria J.
Chauhan, Ganesh
Satizabal, Claudia L.
Smith, Albert Vernon   orcid.org/0000-0003-1942-5845
Hofer, Edith
Bis, Joshua C.
Hibar, Derrek P.
Hilal, Saima
van den Akker, Erik B.
... 52 more authors Show all authors
Date: 2019-08-02
Language: English
Scope: 285
University/Institute: Háskóli Íslands
University of Iceland
School: Heilbrigðisvísindasvið (HÍ)
School of Health Sciences (UI)
Department: Læknadeild (HÍ)
Faculty of Medicine (UI)
Series: Communications Biology;2(1)
ISSN: 2399-3642
DOI: 10.1038/s42003-019-0537-9
Subject: Biomarkers; Genome-wide association studies; Neurology; Erfðarannsóknir; Taugasjúkdómar; Heilinn
URI: https://hdl.handle.net/20.500.11815/1566

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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

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.

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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/.

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