ePrints@IIScePrints@IISc Home | About | Browse | Latest Additions | Advanced Search | Contact | Help

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

van der Lee, SJ and Knol, MJ and Chauhan, G and Satizabal, CL and Smith, AV and Hofer, E and Bis, JC and Hibar, DP and Hilal, S and van den Akker, EB and Arfanakis, K and Bernard, M and Yanek, LR and Amin, N and Crivello, F and Cheung, JW and Harris, TB and Saba, Y and Lopez, OL and Li, S and van der Grond, J and Yu, L and Paus, T and Roshchupkin, GV and Amouyel, P and Jahanshad, N and Taylor, KD and Yang, Q and Mathias, RA and Boehringer, S and Mazoyer, B and Rice, K and Cheng, CY and Maillard, P and van Heemst, D and Wong, TY and Niessen, WJ and Beiser, AS and Beekman, M and Zhao, W and Nyquist, PA and Chen, C and Launer, LJ and Psaty, BM and Ikram, MK and Vernooij, MW and Schmidt, H and Pausova, Z and Becker, DM and De Jager, PL and Thompson, PM and van Duijn, CM and Bennett, DA and Slagboom, PE and Schmidt, R and Longstreth, WT and Ikram, MA and Seshadri, S and Debette, S and Gudnason, V and Adams, HHH and DeCarli, C (2019) A genome-wide association study identifies genetic loci associated with specific lobar brain volumes. In: Communications Biology, 2 (1).

com_boi_2-1_2019.pdf - Published Version

Download (1MB) | Preview
Official URL: https://doi.org/10.1038/s42003-019-0537-9


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.

Item Type: Journal Article
Publication: Communications Biology
Publisher: Nature Research
Additional Information: The copyright for this article belongs to the Authors.
Keywords: comparative study; diagnostic imaging; drug effect; frontal lobe; gene expression regulation; gene locus; genetic variation; genetics; genome-wide association study; genotype; growth, development and aging; heredity; human; nuclear magnetic resonance imaging; occipital lobe; organ size; parietal lobe; phenotype; temporal lobe; United Kingdom, Frontal Lobe; Gene Expression Regulation, Developmental; Genetic Loci; Genetic Variation; Genome-Wide Association Study; Genotype; Heredity; Humans; Magnetic Resonance Imaging; Occipital Lobe; Organ Size; Parietal Lobe; Phenotype; Temporal Lobe; United Kingdom
Department/Centre: Autonomous Societies / Centres > Centre for Brain Research
Date Deposited: 12 Oct 2022 09:19
Last Modified: 12 Oct 2022 09:19
URI: https://eprints.iisc.ac.in/id/eprint/77403

Actions (login required)

View Item View Item