Polygenic architecture of human neuroanatomical diversity

Anne Biton, Nicolas Traut, Jean Baptiste Poline, Benjamin Aribsala, Mark Bastin, Robin Bülow, Simon Cox, Ian Deary, Masaki Fukunaga, Hans Jörgen Grabe, Saskia Hagenaars, Ryota Hashimoto, Masataka Kikuchi, Susana Muñoz Maniega, Matthias Nauck, Natalie Royle, Alexander Teumer, Maria Valdes Hernandez, Uwe Völker, Joanna WardlawKatharina Wittfield, Hidenaga Yamamori, Thomas Bourgeron, Roberto Toro

Research output: Contribution to journalArticlepeer-review

Abstract / Description of output

We analysed the genomic architecture of neuroanatomical diversity using magnetic resonance imagingand single nucleotide polymorphism (SNP) data from >26,000 individuals from the UK Biobank projectand 5 other projects that had previously participated in the ENIGMA consortium. Our results confirm thepolygenic architecture of neuroanatomical diversity, with SNPs capturing from 40% to 54% of regionalbrain 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 distributedacross the genome. At a local scale, SNPs within genes (~51%) captured ~1.5 times more geneticvariance than the rest; and SNPs with low minor allele frequency (MAF) captured less variance than therest: the 40% of SNPs with MAF<5% captured <1/4th of the genetic variance. We also observedextensive pleiotropy across regions, with an average genetic correlation of rG ~0.45. Genetic correlationswere similar to phenotypic and environmental correlations, however, genetic correlations were oftenlarger than phenotypic correlations for the left/right volumes of the same region. The heritability ofdifferences in left/right volumes was generally not statistically significant, suggesting an importantinfluence of environmental causes in the variability of brain asymmetry. Our code is available athttps://github.com/neuroanatomy/genomic-architecture.
Original languageEnglish
Article numberbhz241
JournalCerebral Cortex
Early online date28 Feb 2020
Publication statusE-pub ahead of print - 28 Feb 2020

Keywords / Materials (for Non-textual outputs)

  • neuroimaging
  • genetics
  • polygenic architecture
  • subcortical structures
  • heritability


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