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Adenosine A2A receptor gene (ADORA2A) variants may increase autistic symptoms and anxiety in autism spectrum disorder

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Abstract

Autism spectrum disorders (ASDs) are heterogeneous disorders presenting with increased rates of anxiety. The adenosine A2A receptor gene (ADORA2A) is associated with panic disorder and is located on chromosome 22q11.23. Its gene product, the adenosine A2A receptor, is strongly expressed in the caudate nucleus, which also is involved in ASD. As autistic symptoms are increased in individuals with 22q11.2 deletion syndrome, and large 22q11.2 deletions and duplications have been observed in ASD individuals, in this study, 98 individuals with ASD and 234 control individuals were genotyped for eight single-nucleotide polymorphisms in ADORA2A. Nominal association with the disorder was observed for rs2236624-CC, and phenotypic variability in ASD symptoms was influenced by rs3761422, rs5751876 and rs35320474. In addition, association of ADORA2A variants with anxiety was replicated for individuals with ASD. Findings point toward a possible mediating role of ADORA2A variants on phenotypic expression in ASD that need to be replicated in a larger sample.

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Acknowledgments

We thank the participating individuals for taking part in the study. The study was supported by grant T6 03 10 00-45 of the Saarland University to Christine M. Freitag.

Conflict of interest statement

None of the authors has any conflicts of interest.

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Authors and Affiliations

  1. Department of Child and Adolescent Psychiatry, Johann Wolfgang Goethe-Universität, Deutschordenstraße 50, 60528, Frankfurt am Main, Germany

    Christine M. Freitag

  2. Department of Child and Adolescent Psychiatry, Saarland University Hospital, Homburg, Germany

    Christine M. Freitag, Ellen Huy & Alexander von Gontard

  3. Department of Psychiatry, University of Münster, Münster, Germany

    Matthias Rothermundt, Jürgen Deckert & Christa Hohoff

  4. Institute of Pathology, University of Münster, Münster, Germany

    Konstantin Agelopoulos

  5. Department of Neurobehavioral Genetics, University of Trier, Trier, Germany

    Jobst Meyer

  6. Institute of Transfusion Medicine, University of Münster, Münster, Germany

    Petra Krakowitzky

  7. Department of Psychiatry, University of Würzburg, Würzburg, Germany

    Jürgen Deckert

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  1. Christine M. Freitag
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  2. Konstantin Agelopoulos
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  3. Ellen Huy
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  4. Matthias Rothermundt
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  5. Petra Krakowitzky
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  7. Jürgen Deckert
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  9. Christa Hohoff
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Correspondence to Christine M. Freitag.

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Freitag, C.M., Agelopoulos, K., Huy, E. et al. Adenosine A2A receptor gene (ADORA2A) variants may increase autistic symptoms and anxiety in autism spectrum disorder. Eur Child Adolesc Psychiatry 19, 67–74 (2010). https://doi.org/10.1007/s00787-009-0043-6

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  • DOI: https://doi.org/10.1007/s00787-009-0043-6

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