A population-based association study of glutamate decarboxylase 1 as a candidate gene for autism.
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.
Buttenschøn
Henriette Nørmølle
HN
Centre for Psychiatric Research, Aarhus University Hospital, Risskov, Denmark. hnb@psykiatri.aaa.dk
Lauritsen
Marlene Briciet
MB
El Daoud
Agata
A
Hollegaard
Mads
M
Jorgensen
Meta
M
Tvedegaard
Kristine
K
Hougaard
David
D
Børglum
Anders
A
Thorsen
Poul
P
Mors
Ole
O
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
D005968:Glutamate Decarboxylase; C402565:glutamate decarboxylase 1