AutismKB

Evidence Detail for GSTM1


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Basic Information Top
Gene Symbol:GSTM1 ( GST1,GSTM1-1,GSTM1a-1a,GSTM1b-1b,GTH4,GTM1,H-B,MGC26563,MU,MU-1 )
Gene Full Name: glutathione S-transferase mu 1
Band: 1p13.3
Quick LinksEntrez ID:2944; OMIM: 138350; Uniprot ID:GSTM1_HUMAN; ENSEMBL ID: ENSG00000134184
Sequences Top
>GSTM1|2944|nucleotide
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>GSTM1|2944|protein
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Evidence Statistic Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
Evidences Syndromic Gene GWAS Expression CNV Linkage Low Scale Association Other Studies Total
Score (No. of Studies) No 0 (0) 0 (0) 1 (1) 0 (0) 1 (1) 2 (2) 19 (4)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 0
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
James, 2006_1 USA 1 (detail) 360
(-)
ASD -
-
- 205
(-)
-
-
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Buyske, 2006_1 human bloodASD genetics
  • Subjects: 50
  • Normal Controls: -
  • Methods: PCR
  • Evidence Details: Both analyses support (p = 0.046 for the proposed test, p = 0.028 for the case-control analysis) an association of the homozygous GSTM1 deletion genotype with autism.
James, 2006_1 human plasma--AD genotype-phenotype interaction
  • Subjects: 360
  • Normal Controls: 205
  • Methods: -
  • Evidence Details: The metabolic results indicated that plasma methionine and the ratio of S-adenosylmethionine (SAM) to S-adenosylhomocysteine (SAH), an indicator of methylation capacity, were significantly decreased in the autistic children relative to age-matched controls. In addition, plasma levels of cysteine, glutathione, and the ratio of reduced to oxidized glutathione, an indication of antioxidant capacity and redox homeostasis, were significantly decreased. Differences in allele frequency and/or significant gene-gene interactions were found for relevant genes encoding the reduced folate carrier (RFC 80G > A), transcobalamin II (TCN2 776G > C), catechol-O-methyltransferase (COMT 472G > A), methylenetetrahydrofolate reductase (MTHFR 677C > T and 1298A > C), and glutathione-S-transferase (GST M1).
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0004033 1 1p13.3 loss 1 1 CNVs Only Present In Patients; Levy, 2011
Linkage Studies Top

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  (e.g. NLGN4X)

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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