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  3. Autism Spectrum Disorders And The Volume Of The Striatum And Amygdala: A Mendelian Randomization Study.
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  3. Autism Spectrum Disorders And The Volume Of The Striatum And Amygdala: A Mendelian Randomization Study.

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Autism spectrum disorders and the volume of the striatum and Amygdala: A Mendelian randomization study.

Zhili Yu1, Zhihao Luo2, Jialing Zheng2

  • 1The Third Affiliated Hospital of Guangzhou University of Chinese Medicine, Guangzhou, PR China.

Brain Research
|June 14, 2025

View abstract on PubMed

Summary
This summary is machine-generated.

The putamen

Keywords:
Autism spectrum disorderMendelian randomization analysisStriatum volume

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Area of Science:

  • Neuroscience
  • Genetics
  • Psychiatry

Background:

  • Autism spectrum disorder (ASD) is associated with alterations in striatum and amygdala structure and function.
  • Genetic mechanisms linking ASD to striatum and amygdala volume require further elucidation.

Purpose of the Study:

  • To investigate the causal effect of autism spectrum disorder (ASD) on striatum and amygdala volume using genetic data.
  • To identify specific brain regions within the striatum and amygdala that are genetically influenced by ASD.

Main Methods:

  • Utilized summarized genome-wide association study (GWAS) data from large European and non-European cohorts.
  • Employed Mendelian randomization (MR) methods, including MR-Egger, weighted median, and inverse variance weighted approaches.
  • Assessed pleiotropy and heterogeneity using MR-Egger intercept, MR-presso, and Cochran's Q statistic.

Main Results:

  • A significant causal effect was observed between the increased change rate of the putamen and ASD risk (PIVW=0.015).
  • The amygdala's change rate and overall grey matter volume of the striatum and amygdala did not show a significant association with ASD risk.
  • The putamen's substantial effect size suggests it is a key region affected by ASD.

Conclusions:

  • The putamen's change rate is a significant indicator potentially predictive of ASD risk.
  • No significant predictive capability was found for the amygdala's change rate or general striatum/amygdala grey matter volume in relation to ASD.
  • Evidence supports a genetic link between ASD and putamen volume, warranting further mechanistic research.