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<p>Genetic variants linked to autism are thought to change cognition and behaviour by altering the structure and function of the brain. Although a substantial body of literature has identified structural brain differences in autism, it is unknown whether autism-associated common genetic variants are linked to changes in cortical macro- and micro-structure. We investigated this using neuroimaging and genetic data from adults (UK Biobank, N = 31,748) and children (ABCD, N = 4928). Using polygenic scores and genetic correlations we observe a robust negative association between common variants for autism and a magnetic resonance imaging derived phenotype for neurite density (intracellular volume fraction) in the general population. This result is consistent across both children and adults, in both the cortex and in white matter tracts, and confirmed using polygenic scores and genetic correlations. There were no sex differences in this association. Mendelian randomisation analyses provide no evidence for a causal relationship between autism and intracellular volume fraction, although this should be revisited using better powered instruments. Overall, this study provides evidence for shared common variant genetics between autism and cortical neurite density.</p>

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Polygenic scores for autism are associated with reduced neurite density in adults and children from the general population

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年2月24日

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  • Yuanjun Gu,
  • Eva Maria-Stauffer,
  • Saashi A. Bedford,
  • Deep Adhya,
  • Carrie Allison,
  • Bonnie Ayeung,
  • Rosie Bamford,
  • Richard Bethlehem,
  • Tal Biron-Shental,
  • Graham Burton,
  • Jonathan Davies,
  • Joanna Davis,
  • Dori Floris,
  • Alice Franklin,
  • Lidia Gabis,
  • Daniel Geschwind,
  • David M. Greenberg,
  • Alexandra Havdahl,
  • Alexander Heazell,
  • Rosemary Holt,
  • Matthew Hurles,
  • Yumnah Khan,
  • Meng-Chuan Lai,
  • Madeline Lancaster,
  • Michael Lombardo,
  • Jose Gonzalez Martinez,
  • Jonathan Mill,
  • Mahmoud Koko Musa,
  • Kathy Niakan,
  • Adam Pavlinek,
  • Lucia Dutan Polit,
  • Marcin Radecki,
  • David Rowitch,
  • Laura Sichlinger,
  • Deepak Srivastava,
  • Alexandros Tsompanidis,
  • Florina Uzefovsky,
  • Elizabeth Weir,
  • Xinhe Zhang,
  • Anders Borglum,
  • Jonas Bybjerg-Grauholm,
  • David M. Hougaard,
  • Ole Mors,
  • Preben Bo Mortensen,
  • Merete Nordentoft,
  • Thomas Werge,
  • Rafael Romero-Garcia,
  • Jakob Grove,
  • Anders D. Børglum,
  • Hilary Martin,
  • Simon Baron-Cohen,
  • Richard A. I. Bethlehem,
  • Varun Warrier

摘要

Genetic variants linked to autism are thought to change cognition and behaviour by altering the structure and function of the brain. Although a substantial body of literature has identified structural brain differences in autism, it is unknown whether autism-associated common genetic variants are linked to changes in cortical macro- and micro-structure. We investigated this using neuroimaging and genetic data from adults (UK Biobank, N = 31,748) and children (ABCD, N = 4928). Using polygenic scores and genetic correlations we observe a robust negative association between common variants for autism and a magnetic resonance imaging derived phenotype for neurite density (intracellular volume fraction) in the general population. This result is consistent across both children and adults, in both the cortex and in white matter tracts, and confirmed using polygenic scores and genetic correlations. There were no sex differences in this association. Mendelian randomisation analyses provide no evidence for a causal relationship between autism and intracellular volume fraction, although this should be revisited using better powered instruments. Overall, this study provides evidence for shared common variant genetics between autism and cortical neurite density.