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Chromosome X-Wide Common Variant Association Study (XWAS) in Autism Spectrum Disorder
Marla Mendes1,2, Desmond Zeya Chen2,3, Worrawat Engchuan1,2
1The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, M5G 0A4, Canada.
Medrxiv : the Preprint Server for Health Sciences
|August 7, 2024
Summary
This study identified 59 genetic variants on the X chromosome associated with Autism Spectrum Disorder (ASD) in a large cohort. It highlights novel candidate genes and pathways, advancing our understanding of ASD
Area of Science:
- Genetics
- Neurodevelopmental Disorders
- Human Genomics
Background:
- Autism Spectrum Disorder (ASD) exhibits a significant male prevalence.
- X-linked genetic variants are implicated in ASD, but mechanisms remain unclear.
- Sex chromosomes are underrepresented in genome-wide association studies.
Purpose of the Study:
- To conduct an X chromosome-wide association study (XWAS) for Autism Spectrum Disorder (ASD).
- To identify novel X-linked genetic variants and genes associated with ASD.
- To investigate the role of X chromosome biology in ASD pathogenesis.
Main Methods:
- Performed an X chromosome-wide association study (XWAS) using whole-genome sequencing data.
- Analyzed data from 6,873 individuals with ASD and 8,981 population controls.
- Examined 418,652 X-chromosome variants, applying Bonferroni correction for significance.
Main Results:
- Identified 59 genetic variants significantly associated with ASD on the X chromosome.
- Discovered key regions on chrXp22.2 (e.g., near ASB9/ASB11) and chrXq21.31 (e.g., near DDX53/PTCHD1-AS).
- Confirmed associations for 17 known ASD-related genes and nominated FGF13 as a novel candidate gene.
Conclusions:
- The X chromosome plays a significant role in Autism Spectrum Disorder (ASD) pathogenesis.
- This study provides novel insights into X-linked genetic factors contributing to ASD.
- Findings nominate specific genes and pathways for future research into ASD etiology.
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