AutismKB

Evidence Detail for COMT


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Basic Information Top
Gene Symbol:COMT ( - )
Gene Full Name: catechol-O-methyltransferase
Band: 22q11.21-q11.23|22q11.21
Quick LinksEntrez ID:1312; OMIM: 116790; Uniprot ID:COMT_HUMAN; ENSEMBL ID: ENSG00000093010
Sequences Top
>COMT|1312|nucleotide
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>COMT|1312|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) 2 (10) 1 (1) 2 (4) 1 (2) 18 (9)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 2
Case Control Based Association Studies: 2
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
(-)
-
-
Toma, 2012_1 Spanish 2 (detail) 326
(16.87%)
ASD 17
-
- 350
(16.86%)
-
-
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
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).
Gadow, 2009_1 human bloodASD genetics
  • Subjects: 67
  • Normal Controls: -
  • Methods: PCR, sequencing
  • Evidence Details: COMT rs4680 (p = 0.06) were marginally significant for teacher ratings of social phobia (etap (2) = 0.06).
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000030 22 22q11.21 loss 1 - CNVs Overlapping With ACRD; Szatmari, 2007
AutCNV0000031 22 22q11.21 gain 1 - CNVs Overlapping With ACRD; Szatmari, 2007
AutCNV0000157 22 22q11.21 loss 1 - Denovo CNVs; Marshall, 2008
AutCNV0000158 22 22q11.21 gain 1 - Denovo CNVs; Marshall, 2008
AutCNV0000188 22 22q11.2 loss 1 - Other; Marshall, 2008
AutCNV0000189 22 22q11.2 gain 2 - Overlapping/Recurrent CNVs; Other; Denovo CNVs; Marshall, 2008
AutCNV0000244 22 22q11.21 gain 2 - Overlapping/Recurrent CNVs; Denovo CNVs; Christian, 2008
AutCNV0000269 22 22q11 loss 1 - CNVs Only Present In Patients; Roubertie, 2001
AutCNV0000270 22 22q11 loss 1 - CNVs Only Present In Patients; Niklasson, 2002
AutCNV0000392 22 22q11.2 gain 1 - CNVs Only Present In Patients; Ramelli, 2008
AutCNV0000722 22 22q11.21 gain 1 - Overlapping/Recurrent CNVs; Bremer, 2011
AutCNV0000759 22 22q11.21 gain 1 - paternal Pinto, 2010
AutCNV0000760 22 22q11.21 gain 1 - paternal Pinto, 2010
AutCNV0000826 22 22q11.21 gain 1 - DeNovo Pinto, 2010
AutCNV0003864 22 22q11.21 loss 1 - Denovo CNVs; Levy, 2011
AutCNV0004388 22 22q11.21 loss 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004389 22 22q11.21 gain 1 - Overlapping/Recurrent CNVs; DeNovo Sanders, 2011
AutCNV0004390 22 22q11.21 gain 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004391 22 22q11.21 gain 1 - Overlapping/Recurrent CNVs; paternal Sanders, 2011
AutCNV0004392 22 22q11.21-q11.22 gain 1 - Overlapping/Recurrent CNVs; Sanders, 2011
Linkage Studies Top
Linkage Name Band Chr Marker LOD NPL P_Value Reference
AutLD0000028 22q11.21 22 D22S264 1.3 - - Bailey, 1998

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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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