Genomic architecture of human neuroanatomical diversity

Roberto Toro, Jean-Baptiste Poline, Guillaume Huguet, Eva Loth, Vincent Frouin, Tobias Banaschewski, Gareth J Barker, Arun Bokde, Christian Büchel, Fabiana Carvalho, Patricia Conrod, Mira Fauth-Bühler, Herta Flor, Jürgen Gallinat, Hugh Garavan, Penny Gowloan, Andreas Heinz, Bernd Ittermann, Claire Lawrence, Hervé Lemaître, Karl Mann, Frauke Nees, TomᚠPaus, Zdenka Pausova, Marcella Rietschel, Trevor Robbins, Michael Smolka, Andreas Ströhle, Gunter Schumann, Thomas Bourgeron
. 2013-12-10; :
DOI: 10.1101/001198

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 we show, based on our analyses of neuroimaging and whole-genome genotyping data from 1,765 subjects, 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.

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