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

Henriette Nørmølle Buttenschøn, Marlene Briciet Lauritsen, Agata El Daoud, Mads Hollegaard, Meta Jorgensen, Kristine Tvedegaard, David Hougaard, Anders Børglum, Poul Thorsen, Ole Mors

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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.

TidsskriftJournal of Neural Transmission
Udgave nummer3
Sider (fra-til)381-8
Antal sider8
StatusUdgivet - mar. 2009