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Journal Articles Cerebral Cortex Year : 2020

Polygenic Architecture of Human Neuroanatomical Diversity


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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pasteur-02915091 , version 1 (13-08-2020)



Anne Biton, Nicolas Traut, Jean-Baptiste Poline, Benjamin Aribisala, Mark Bastin, et al.. Polygenic Architecture of Human Neuroanatomical Diversity. Cerebral Cortex, 2020, 30 (4), pp.2307-2320. ⟨10.1093/cercor/bhz241⟩. ⟨pasteur-02915091⟩
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