Evidence Detail for MAOA

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Basic Information Top
Gene Symbol:MAOA ( - )
Gene Full Name: monoamine oxidase A
Band: Xp11.3
Quick LinksEntrez ID:4128; OMIM: 309850; Uniprot ID:AOFA_HUMAN; ENSEMBL ID: ENSG00000189221
Sequences Top
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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) 0 (0) 1 (1) 0 (0) 1 (4) 3 (3) 26 (8)
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
(% Women)
ADI-R ADOS Diagnosis Age
IQ #Subjects
(% Women)
Tassone, 2011_1 USA 1 (detail) 172
ASD 3.8±0.9
- 137
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Cohen, 2003_1 human bloodASD genetics
  • Subjects: 41 male
  • Normal Controls: -
  • Methods: PCR
  • Evidence Details: Children with the low-activity MAOA allele had both lower intelligence quotients (IQ) and more severe autistic behavior than children with the high-activity allele. In follow-up testing of 34 of the male at the 1-year time-point, those with the low-activity allele showed a worsening in IQ but no change in the severity of their autistic behavior. We conclude that functional MAOA-uVNTR alleles may act as a genetic modifier of the severity of autism in male.
Jones, 2004_1 human ---ASD genetics
  • Subjects: 179
  • Normal Controls: -
  • Methods: -
  • Evidence Details: Sizeable and significant modifier effects were found at the MAO locus and, to a lesser extent, at the DBH locus.
Hranilovic, 2008_1 human blood--AD genotype-phenotype interaction
  • Subjects: 63
  • Normal Controls: -
  • Methods: -
  • Evidence Details: However, significantly higher PSL(platelet serotonin level)s were observed in subjects with "cc" genotype of a218c TPH and subjects with "4" genotype of uVNTR MAOA. In addition, when TPH-cc and MAOA-4 were combined as "high 5HT" genotypes, a correlative increase in PSL was observed with the increase in the number of "high 5HT" genotypes.
Roohi, 2009_1 human -ASD genotype-phenotype interaction
  • Subjects: 43 boys between 5 and 14 years
  • Normal Controls: -
  • Methods: PCR-RFLP, Behavioral Evaluations
  • Evidence Details: Planned comparisons indicated that children with the 4- versus 3-repeat allele had significantly (p < 05) more severe parent-rated ADHD inattention and impulsivity, and more severe teacher-rated symptoms of generalized anxiety.
Piton, 2010_1 human bloodASD genetics: mutation screen
  • Subjects: 142( 122 males and 20 females)
  • Normal Controls: -
  • Methods: direct sequencing
  • Evidence Details: Exonic variants identified during the the screening of the 164 X-linked synapic genes
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000713 X Xp11.2-p22.33 gain 1 - CNVs Only Present In Patients; Edens, 2011
Linkage Studies Top

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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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