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  1. Home
  3. M6a Modification Genetic Variants Associated With Autism Spectrum Disorder Risks.
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  3. M6a Modification Genetic Variants Associated With Autism Spectrum Disorder Risks.

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m6A Modification Genetic Variants Associated with Autism Spectrum Disorder Risks.

Haoxue Wang1, Shuai Zhao1, Yanlin Chen2

  • 1Department of Maternal and Child Health and MOE (Ministry of Education) Key Lab of Environment and Health, School of Public Health, Tongji Medical College, Huazhong University of Science and Technology, No 13 Hangkong Road, Wuhan, 430030, China.

Molecular Neurobiology
|May 27, 2026

View abstract on PubMed

Summary
This summary is machine-generated.

Genetic variants in N6-methyladenosine (m6A) modification genes are linked to Autism Spectrum Disorder (ASD) susceptibility. This study identifies key m6A-QTL SNPs and genes, offering insights into epigenetic mechanisms in neurodevelopmental disorders.

Keywords:
Autism Spectrum DisorderEpigeneticsGenetic VariantsNeurodevelopmentm6A modification

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Area of Science:

  • Neuroscience
  • Genetics
  • Epigenetics

Background:

  • Autism Spectrum Disorder (ASD) is a prevalent neurodevelopmental disorder with high heritability.
  • The role of N6-methyladenosine (m6A) epigenetic modifications in ASD pathogenesis is largely unknown.
  • Understanding these mechanisms is crucial for developing targeted interventions.

Purpose of the Study:

  • To identify m6A-QTL single nucleotide polymorphisms (SNPs) and modification genes associated with ASD.
  • To investigate the functional implications of these genetic variants in neurodevelopmental pathways.
  • To provide insights into the epigenetic underpinnings of ASD.

Main Methods:

  • Bioinformatics analysis of m6A-QTL data and ASD genetic databases.
  • Two-stage population validation in Chinese and European cohorts (totaling over 20,000 individuals).
  • Functional annotation of candidate variants and target genes, including transcription factor binding analysis.

    • Main Results:

    • Identified 2830 SNPs associated with m6A modification levels.
    • Discovered 91 m6A-QTL-associated ASD candidate SNPs in the Chinese cohort.
    • Validated 8 variants in the European cohort, with three high-confidence variants (rs10242048, rs2304447, rs4074309).
    • rs4074309 potentially regulates STAT6 m6A levels and LRP1 expression, involving THAP1 binding and neurodevelopmental pathways (JAK-STAT, tau-protein kinase).

    Conclusions:

    • Genetic variants in m6A modification genes contribute to ASD susceptibility.
    • m6A modification plays a significant role in neurodevelopmental disorders.
    • The study provides novel insights into the epigenetic mechanisms underlying ASD.