European Child & Adolescent Psychiatry

, Volume 19, Issue 1, pp 67–74 | Cite as

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

  • Christine M. FreitagEmail author
  • Konstantin Agelopoulos
  • Ellen Huy
  • Matthias Rothermundt
  • Petra Krakowitzky
  • Jobst Meyer
  • Jürgen Deckert
  • Alexander von Gontard
  • Christa Hohoff
Original Contribution


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.


Autism spectrum disorder ADORA2A Anxiety Basal ganglia Caudate nucleus Glutamate 



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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Copyright information

© Springer-Verlag 2009

Authors and Affiliations

  • Christine M. Freitag
    • 1
    • 2
    Email author
  • Konstantin Agelopoulos
    • 4
  • Ellen Huy
    • 2
  • Matthias Rothermundt
    • 3
  • Petra Krakowitzky
    • 6
  • Jobst Meyer
    • 5
  • Jürgen Deckert
    • 3
    • 7
  • Alexander von Gontard
    • 2
  • Christa Hohoff
    • 3
  1. 1.Department of Child and Adolescent PsychiatryJohann Wolfgang Goethe-UniversitätFrankfurt am MainGermany
  2. 2.Department of Child and Adolescent PsychiatrySaarland University HospitalHomburgGermany
  3. 3.Department of PsychiatryUniversity of MünsterMünsterGermany
  4. 4.Institute of PathologyUniversity of MünsterMünsterGermany
  5. 5.Department of Neurobehavioral GeneticsUniversity of TrierTrierGermany
  6. 6.Institute of Transfusion MedicineUniversity of MünsterMünsterGermany
  7. 7.Department of PsychiatryUniversity of WürzburgWürzburgGermany

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