title: A population-based association study of glutamate decarboxylase 1 as a candidate gene for autism.
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.
authors.affiliation: Centre for Psychiatric Research, Aarhus University Hospital, Risskov, Denmark. hnb@psykiatri.aaa.dk
authors.forename: Henriette Nørmølle
authors.initials: HN
authors.lastname: Buttenschøn
authors.forename: Marlene Briciet
authors.initials: MB
authors.lastname: Lauritsen
authors.forename: Agata
authors.initials: A
authors.lastname: El Daoud
authors.forename: Mads
authors.initials: M
authors.lastname: Hollegaard
authors.forename: Meta
authors.initials: M
authors.lastname: Jorgensen
authors.forename: Kristine
authors.initials: K
authors.lastname: Tvedegaard
authors.forename: David
authors.initials: D
authors.lastname: Hougaard
authors.forename: Anders
authors.initials: A
authors.lastname: Børglum
authors.forename: Poul
authors.initials: P
authors.lastname: Thorsen
authors.forename: Ole
authors.initials: O
authors.lastname: Mors
mesh_terms: D001321:Autistic Disorder / Q000235:genetics*; D016022:Case-Control Studies; D002648:Child; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D003718:Denmark; D005091:Exons; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005968:Glutamate Decarboxylase / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D007438:Introns; D008297:Male; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic
chemical_list: D005968:Glutamate Decarboxylase; C402565:glutamate decarboxylase 1