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Polygenic Architecture of Human Neuroanatomical Diversity

Anne Biton 1, 2 Nicolas Traut 1 Jean-Baptiste Poline 3 Benjamin Aribisala 4, 5, 6 Mark Bastin 5, 4, 7 Robin Bülow 8 Simon R. Cox 4, 5 Ian Deary 4, 5 Masaki Fukunaga 9, 10 Hans Grabe 11, 12 Saskia Hagenaars 4, 5, 13 Ryota Hashimoto 14 Masataka Kikuchi 15 Susana Muñoz Maniega 4, 5, 7 Matthias Nauck 16, 17 Natalie Royle 5, 4, 7 Alexander Teumer 18 Maria Valdés Hernández 5, 4, 7 Uwe Völker 19, 16 Joanna Wardlaw 7, 19, 5 Katharina Wittfeld 12 Hidenaga Yamamori 15 Thomas Bourgeron 1 Roberto Toro 1, 20, *
Abstract : We analyzed the genomic architecture of neuroanatomical diversity using magnetic resonance imaging and single nucleotide polymorphism (SNP) data from >26 000 individuals from the UK Biobank project and 5 other projects that had previously participated in the ENIGMA (Enhancing NeuroImaging Genetics through Meta-Analysis) consortium. Our results confirm the polygenic architecture of neuroanatomical diversity, with SNPs capturing from 40% to 54% of regional brain volume variance. Chromosomal length correlated with the amount of phenotypic variance captured, r ~ 0.64 on average, suggesting that at a global scale causal variants are homogeneously distributed across the genome. At a local scale, SNPs within genes (~51%) captured ~1.5 times more genetic variance than the rest, and SNPs with low minor allele frequency (MAF) captured less variance than the rest: the 40% of SNPs with MAF <5% captured
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Anne Biton, Nicolas Traut, Jean-Baptiste Poline, Benjamin Aribisala, Mark Bastin, et al.. Polygenic Architecture of Human Neuroanatomical Diversity. Cerebral Cortex, Oxford University Press (OUP), 2020, 30 (4), pp.2307-2320. ⟨10.1093/cercor/bhz241⟩. ⟨pasteur-02915091⟩

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