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

Christine M. Freitag (1, 2) , Konstantin Agelopoulos (3) , Ellen Huy (2) , Matthias Rothermundt (4) , Petra Krakowitzky (5) , Jobst Meyer (6) , Jürgen Deckert (4, 7) , Alexander Gontard (2) , Christa Hohoff (4)

1 Department of Child and Adolescent Psychiatry
2 Department of Child and Adolescent Psychiatry
3 Institute of Pathology
4 Department of Psychiatry
5 Institute of Transfusion Medicine
6 Department of Neurobehavioral Genetics
7 Department of Psychiatry

Autism spectrum disorders (ASDs) are heterogeneous disorders presenting with increased rates of anxiety. The adenosine A receptor gene () is associated with panic disorder and is located on chromosome 22q11.23. Its gene product, the adenosine A 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 . 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 variants with anxiety was replicated for individuals with ASD. Findings point toward a possible mediating role of variants on phenotypic expression in ASD that need to be replicated in a larger sample.

Mots clés: Autism spectrum disorder; ADORA2A; Anxiety; Basal ganglia; Caudate nucleus; Glutamate

Christine M. Freitag, Konstantin Agelopoulos, Ellen Huy, Matthias Rothermundt, Petra Krakowitzky, et al.. Adenosine A receptor gene () variants may increase autistic symptoms and anxiety in autism spectrum disorder. European Child and Adolescent Psychiatry, 2009, 19 (1), pp.67-74. ⟨10.1007/s00787-009-0043-6⟩. ⟨hal-00535164⟩