Journal of Neural Transmission

, 116:381

A population-based association study of glutamate decarboxylase 1 as a candidate gene for autism

Authors

    • Centre for Psychiatric ResearchAarhus University Hospital
  • Marlene Briciet Lauritsen
    • Centre for Psychiatric ResearchAarhus University Hospital
    • Department of Epidemiology and Social Medicine, NANEAUniversity of Aarhus
  • Agata El Daoud
    • Centre for Psychiatric ResearchAarhus University Hospital
  • Mads Hollegaard
    • Department of Epidemiology and Social Medicine, NANEAUniversity of Aarhus
    • Department of Clinical BiochemistryStatens Serum Institut
    • Department of Biochemistry and Molecular BiologyUniversity of Southern Denmark
  • Meta Jorgensen
    • Psychiatric Hospital for Children and AdolescentsAarhus University Hospital
  • Kristine Tvedegaard
    • Department of Epidemiology and Social Medicine, NANEAUniversity of Aarhus
  • David Hougaard
    • Department of Clinical BiochemistryStatens Serum Institut
  • Anders Børglum
    • Centre for Psychiatric ResearchAarhus University Hospital
    • Institute of Human GeneticsUniversity of Aarhus
  • Poul Thorsen
    • Department of Epidemiology and Social Medicine, NANEAUniversity of Aarhus
  • Ole Mors
    • Centre for Psychiatric ResearchAarhus University Hospital
Biological Child and Adolescent Psychiatry - Original Article

DOI: 10.1007/s00702-008-0142-4

Cite this article as:
Buttenschøn, H.N., Lauritsen, M.B., Daoud, A.E. et al. J Neural Transm (2009) 116: 381. doi:10.1007/s00702-008-0142-4

Abstract

Linkage studies, genome-wide scans and screening of possible candidate genes suggest that chromosome 2q31 may harbour one or more susceptibility genes for autism. The glutamate decarboxylase gene 1 (GAD1) located within chromosome 2q31 encodes the enzyme, GAD67, catalyzing the production of gamma-aminobutyric acid (GABA) from glutamate. Numerous independent findings have suggested the GABAergic system to be involved in autism. The present study investigates a Danish population-based, case-control sample of 444 subjects with childhood autism and 444 controls. Nine single nucleotide polymorphisms (SNPs) comprising the GAD1 gene and the microsatellite marker D2S2381 were examined for association with autism. We found no association between childhood autism and any single marker or 2–5 marker haplotypes. However, a rare nine-marker haplotype was associated with childhood autism. We cannot exclude neither GAD1 as a susceptibility gene nor the possibility of another susceptibility gene for autism to be located on chromosome 2q31.

Keywords

AutismGAD1GABAAssociation2q31

Copyright information

© Springer-Verlag 2008