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Genetic Overlap Between Attention Deficit/Hyperactivity Disorder and Autism Spectrum Disorder in SHANK2 Gene.

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SHANK2 gene variations are linked to both attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD). This finding suggests SHANK2 may be a pleiotropic gene contributing to the genetic overlap and high comorbidity of ADHD and ASD.

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Area of Science:

  • Neurogenetics
  • Developmental Neuroscience
  • Psychiatric Genetics

Background:

  • High comorbidity observed between attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD).
  • Shared genetic influences proposed as a potential factor contributing to the comorbidity of ADHD and ASD.
  • Investigation into SHANK genes as potential pleiotropic candidates for ADHD and ASD.

Purpose of the Study:

  • To investigate SHANK2 and SHANK3 genes as potential pleiotropic genes.
  • To explore the genetic overlap between ADHD and ASD.
  • To understand the genetic underpinnings of the high comorbidity between ADHD and ASD.

Main Methods:

  • Recruited 298 boys with ADHD, 134 boys with ASD, 109 boys with both ADHD and ASD, and 232 controls.
  • Genotyped single nucleotide polymorphisms (SNPs) in SHANK2 and SHANK3 genes.
  • Analyzed allele frequencies and performed association tests, including permutation tests for significance.

Main Results:

  • No significant allele frequency differences for SHANK2/SHANK3 SNPs between clinical and control groups initially.
  • After combining groups, three SHANK2 SNPs (rs11236616, rs7106631, rs9888288) showed significant association with both ADHD and ASD.
  • Results held significance after multiple testing correction, indicating a potential genetic link.

Conclusions:

  • SHANK2 emerges as a potential pleiotropic gene implicated in the genetic overlap between ADHD and ASD.
  • Findings suggest SHANK2 may contribute to the observed high comorbidity of ADHD and ASD in children.
  • Further research into SHANK2's role could elucidate shared etiological pathways for these neurodevelopmental disorders.