AutismKB

Evidence Detail for GAD1


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Basic Information Top
Gene Symbol:GAD1 ( FLJ45882,GAD,SCP )
Gene Full Name: glutamate decarboxylase 1 (brain, 67kDa)
Band: 2q31
Quick LinksEntrez ID:2571; OMIM: 605363; Uniprot ID:DCE1_HUMAN; ENSEMBL ID: ENSG00000128683
Sequences Top
>GAD1|2571|nucleotide
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>GAD1|2571|protein
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Evidence Statistic Top

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Evidences Syndromic Gene GWAS Expression CNV Linkage Low Scale Association Other Studies Total
Score (No. of Studies) No 0 (0) 1 (1) 1 (1) 2 (4) 2 (4) 2 (2) 25 (12)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 3
Case Control Based Association Studies: 1
Reference Population #SNPs/ #VNTRs ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
CAUCASIAN
Buttenschon, 2009_1 Denmark 9 (detail) 444
(-)
ASD -
(10-19)
- 444
(-)
-
(10-19)
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Yip, 2007_1 human Purkinje cell--- RNA expression
  • Subjects: -
  • Normal Controls: -
  • Methods: in situ hybridization
  • Evidence Details: The results indicate that GAD 67 isoform mRNA level was reduced by 40% in the autistic group (P < 0.0001; two-tailed t test), suggesting that reduced Purkinje cell GABA input to the cerebellar nuclei potentially disrupts cerebellar output to higher association cortices affecting motor and/or cognitive function.
O'Roak, 2012_1 human bloodASD Mutation screen
  • Subjects: 209 simplex pedigrees
  • Normal Controls: -
  • Methods: direct sequencing
  • Evidence Details: De novo functional mutation was found in this gene locus
Large Scale Expression Studies Top
Microarray Studies: 1
Reference Population Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Voineagu, 2011_1 Unknown 16 frontal cortex(BA9) and 13 temporal cortex(BA41 16
(25.00%)
-autism 16
(6.25%)
0.57547 Down -
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_2292646
  • RefSeq_ID/ EST: -
  • GEO_ID: GSE28521
  • Statistic Method: SAM package and unless otherwise specified the significance threshold was FDR,0.05 and fold changes.1.3.
Proteomics Studies:0
Reference Population Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0001194 2 2q31.1 gain 1 - maternal Pinto, 2010
Linkage Studies Top
Linkage Name Band Chr Marker LOD NPL P_Value Reference
AutLD0000030 2q31.1 2 D2S2188 3.74 - - Monaco, 2001
AutLD0000071 2q31.1 2 D2S335 1.2 - - Buxbaum, 2001
AutLD0000076 2q31.1-31.3 2 D2S2314/D2S2310 2.54 - - Lamb, 2005
AutLD0000127 2q31.1 2 D2S2381 - - 0.00525 Lauritsen, 2006

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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 616
  • Genes: 3,075
  • SNPs/VNTRs: 3,386
  • CNVs: 4,617
  • Linkage Regions: 158
  • Last Update: 05/25/2012
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