Biological Child and Adolescent Psychiatry - Original Article

Journal of Neural Transmission

, Volume 116, Issue 3, pp 381-388

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

  • Henriette Nørmølle ButtenschønAffiliated withCentre for Psychiatric Research, Aarhus University Hospital Email author 
  • , Marlene Briciet LauritsenAffiliated withCentre for Psychiatric Research, Aarhus University HospitalDepartment of Epidemiology and Social Medicine, NANEA, University of Aarhus
  • , Agata El DaoudAffiliated withCentre for Psychiatric Research, Aarhus University Hospital
  • , Mads HollegaardAffiliated withDepartment of Epidemiology and Social Medicine, NANEA, University of AarhusDepartment of Clinical Biochemistry, Statens Serum InstitutDepartment of Biochemistry and Molecular Biology, University of Southern Denmark
  • , Meta JorgensenAffiliated withPsychiatric Hospital for Children and Adolescents, Aarhus University Hospital
  • , Kristine TvedegaardAffiliated withDepartment of Epidemiology and Social Medicine, NANEA, University of Aarhus
  • , David HougaardAffiliated withDepartment of Clinical Biochemistry, Statens Serum Institut
  • , Anders BørglumAffiliated withCentre for Psychiatric Research, Aarhus University HospitalInstitute of Human Genetics, University of Aarhus
  • , Poul ThorsenAffiliated withDepartment of Epidemiology and Social Medicine, NANEA, University of Aarhus
    • , Ole MorsAffiliated withCentre for Psychiatric Research, Aarhus University Hospital

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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

Autism GAD1 GABA Association 2q31