Genomic architecture of human neuroanatomical diversity

Roberto Toro (1) , J-B Poline (2, 3) , G Huguet (1) , E Loth (4) , V. Frouin (2) , T. Banaschewski (5, 6) , G J Barker (4) , A Bokde (7) , C Büchel (8) , F.M. Carvalho (4) , P Conrod (4, 9) , M Fauth-Bühler (5, 6) , H Flor (5, 6) , J Gallinat (10) , H Garavan (7, 11) , P Gowland (11) , A. Heinz (10) , B Ittermann (12) , C Lawrence (13) , H Lemaître (14, 15) , K. Mann (5, 6) , F Nees (5, 6) , T Paus (13, 16, 17, 9) , Z Pausova (17) , M Rietschel (5, 6) , T Robbins (18) , M N Smolka (19) , A Ströhle (10) , G. Schumann (4) , T. Bourgeron (1, 20)

1 GHFC (UMR_3571 / U-Pasteur_1) - Génétique humaine et fonctions cognitives - Human Genetics and Cognitive Functions
2 LBNL - Lawrence Berkeley National Laboratory [Berkeley]
3 NEUROSPIN - Service NEUROSPIN
4 Institute of Psychiatry, Psychology & Neuroscience, King's College London
5 Medical Faculty [Mannheim]
6 Universität Heidelberg [Heidelberg] = Heidelberg University
7 Trinity College Dublin
8 UKE - Universitaetsklinikum Hamburg-Eppendorf = University Medical Center Hamburg-Eppendorf [Hamburg]
9 CHU Sainte Justine [Montréal]
10 Charité - UniversitätsMedizin = Charité - University Hospital [Berlin]
11 University of Vermont [Burlington]
12 PTB - Physikalisch-Technische Bundesanstalt [Berlin]
13 UON - University of Nottingham, UK
14 U1000 - Neuroimagerie en psychiatrie
15 Maison de Solenn [CHU Cochin]
16 RRI - Rotman Research Institute at the Baycrest Centre
17 University of Toronto
18 CAM - University of Cambridge [UK]
19 TU Dresden - Technische Universität Dresden = Dresden University of Technology
20 Fondation FondaMental [Créteil]

Human brain anatomy is strikingly diverse and highly inheritable: genetic factors may explain up to 80% of its variability. Prior studies have tried to detect genetic variants with a large effect on neuroanatomical diversity, but those currently identified account for <5% of the variance. Here, based on our analyses of neuroimaging and whole-genome genotyping data from 1765 subjects, we show that up to 54% of this heritability is captured by large numbers of single-nucleotide polymorphisms of small-effect spread throughout the genome, especially within genes and close regulatory regions. The genetic bases of neuroanatomical diversity appear to be relatively independent of those of body size (height), but shared with those of verbal intelligence scores. The study of this genomic architecture should help us better understand brain evolution and disease.

Domains: Life Sciences [q-bio]

Roberto Toro, J-B Poline, G Huguet, E Loth, V. Frouin, et al.. Genomic architecture of human neuroanatomical diversity. Molecular Psychiatry, 2015, 20 (8), pp.1011-1016. ⟨10.1038/mp.2014.99⟩. ⟨pasteur-01967180⟩