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

Journal article (2019)

Authors

S.J. van der Lee Erasmus MC
Maria J. Knol Erasmus MC
Ganesh Chauhan Indian Institute of Science, Bordeaux Population Health
Claudia L. Satizabal University of Texas Health Science Center at San Antonio, Boston University School of Medicine
Albert Vernon Smith University of Iceland, Icelandic Heart Association
Edith Hofer Medical University Graz
Joshua C. Bis University of Washington
Erik van den Akker Leiden University Medical Center, Pattern Recognition and Bioinformatics - EEMCS
W.J. Niessen Erasmus MC, ImPhys/Quantitative Imaging
More Authors... External organisation
Research Group
Pattern Recognition and Bioinformatics (EEMCS) (TU Delft)
Copyright: © 2019 S.J. van der Lee, Maria J. Knol, Ganesh Chauhan, Claudia L. Satizabal, Albert Vernon Smith, Edith Hofer, Joshua C. Bis, E.B. van den Akker, W.J. Niessen, More Authors
DOI: https://doi.org/10.1038/s42003-019-0537-9
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Published Date

2019

Language

English

Faculty

Electrical Engineering, Mathematics and Computer Science

Department

Intelligent Systems

Research Group

Pattern Recognition and Bioinformatics

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.