Polygenic Architecture of Human Neuroanatomical Diversity.,Cerebral Cortex

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Polygenic Architecture of Human Neuroanatomical Diversity.
Cerebral Cortex ( IF 2.9 ) Pub Date : 2020-04-14 , DOI: 10.1093/cercor/bhz241
Anne Biton _{1,

2} , Nicolas Traut ₁ , Jean-Baptiste Poline ₃ , Benjamin S Aribisala _{4,

5,

6} , Mark E Bastin _{4,

5,

7} , Robin Bülow ₈ , Simon R Cox _{4,

9} , Ian J Deary _{4,

9} , Masaki Fukunaga _{10,

11} , Hans J Grabe _{12,

13} , Saskia Hagenaars _{4,

9,

14} , Ryota Hashimoto ₁₅ , Masataka Kikuchi ₁₆ , Susana Muñoz Maniega _{4,

5,

7} , Matthias Nauck _{17,

18} , Natalie A Royle _{4,

5,

7} , Alexander Teumer ₁₉ , Maria Valdés Hernández _{4,

5,

7} , Uwe Völker _{18,

20} , Joanna M Wardlaw _{4,

5,

7} , Katharina Wittfeld _{12,

13} , Hidenaga Yamamori ₂₁ , , Thomas Bourgeron ₁ , Roberto Toro _{1,

22}

Affiliation

Human Genetics and Cognitive Functions Unit, Institut Pasteur, UMR 3571, CNRS, Université Paris Diderot, Paris 75015, France.
Hub de Bioinformatique et Biostatistique-Département Biologie Computationnelle, Institut Pasteur, USR 3756 CNRS, Paris 75015, France.
Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montreal, Quebec, H3A 2B4, Canada.
Centre for Cognitive Ageing and Cognitive Epidemiology, Department of Psychology, University of Edinburgh, Edinburgh, EH8 9JZ, UK.
Centre for Clinical Brain Sciences, University of Edinburgh, Edinburgh, EH16 4SB UK.
Department of Computer Science, Lagos State University, Lagos, 102101, Nigeria.
Brain Research Imaging Centre, Centre for Clinical Brain Sciences, University of Edinburgh, Edinburgh, EH16 4TJ, UK.
The Institute of Diagnostic Radiology and Neuroradiology, University Medicine Greifswald, Greifswald, 17489, Germany.
Department of Psychology, University of Edinburgh, Edinburgh, EH8 9JZ, UK.
Division of Cerebral Integration, National Institute for Physiological Sciences, Okazaki, 444-8585, Japan.
Department of Physiological Sciences, School of Life Sciences, The Graduate University for Advanced Studies (SOKENDAI), Hayama, 240-0193, Japan.
Department of Psychiatry and Psychotherapy, University Medicine Greifswald, Greifswald, 17485, Germany.
German Centre of Neurodegenerative Diseases (DZNE) Site Greifswald/Rostock, Greifswald, 17489, Germany.
The Social Genetic and Developmental Psychiatry Research Centre, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, SE5 8AF, UK.
Department of Pathology of Mental Diseases, National Institute of Mental Health, National Center of Neurology and Psychiatry, Tokyo, 187-0031, Japan.
Department of Genome Informatics, Graduate School of Medicine, Osaka University, Osaka, 565-0871, Japan.
Institute of Clinical Chemistry and Laboratory Medicine, University Medicine Greifswald, Greifswald, 17475, Germany.
DZHK (German Centre for Cardiovascular Research), Partner Site Greifswald, University Medicine, Greifswald, 17475, Germany.
Institute for Community Medicine, University Medicine Greifswald, Greifswald, 17475, Germany.
Department of Functional Genomics, Interfaculty Institute of Genetics and Functional Genomics, University Greifswald, Greifswald, 17475, Germany.
Department of Psychiatry, Graduate School of Medicine, Osaka University, Osaka, 565-0871, Japan.
Center for Research and Interdisciplinarity (CRI), Université Paris Descartes, Paris, 75004, France.

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

中文翻译：

人类神经解剖学多样性的多基因结构。

我们使用磁共振成像和来自英国生物银行项目和之前参与 ENIGMA（通过元分析增强神经成像遗传学）的 26 000 个人的单核苷酸多态性 (SNP) 数据分析了神经解剖多样性的基因组结构财团。我们的结果证实了神经解剖学多样性的多基因结构，SNP 捕获了 40% 到 54% 的区域脑容量差异。染色体长度与捕获的表型变异量相关，平均 r ~ 0.64，表明在全球范围内，因果变异在基因组中均匀分布。在局部范围内，基因内的 SNP（约 51%）捕获的遗传变异比其他基因多约 1.5 倍，

更新日期：2020-02-28

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