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• W2138972275 abstract "Abstract Monoamine oxidase A ( MAOA ) is an enzyme expressed in the brain that metabolizes dopamine, norepinephrine, epinephrine, and serotonin. Abnormalities of serotonin neurotransmission have long been implicated in the psychopathology of autism. A polymorphism exists within the promoter region of the MAOA gene that influences MAOA expression levels so that “low activity” alleles are associated with increased neurotransmitter levels in the brain. Individuals with autism often exhibit elevated serotonin levels. Additional studies indicate that the “low activity” allele may be associated with lower IQ and more severe autistic symptoms. In this study we genotyped the MAOA promoter polymorphism in a group of 29 males (age 2–3 years) with autism and a group of 39 healthy pediatric controls for whom brain MRI data was available. We found a consistent association between the “low activity” allele and larger brain volumes for regions of the cortex in children with autism but not in controls. We did not find evidence for over‐transmission of the “low activity” allele in a separate sample of 114 affected sib pair families. Nor did we find any unknown SNPs in yet another sample of 96 probands. Future studies will determine if there is a more severe clinical phenotype associated with both the “low activity” genotype and the larger brain volumes in our sample. © 2008 Wiley‐Liss, Inc." @default.
• W2138972275 created "2016-06-24" @default.
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• W2138972275 creator A5084334583 @default.
• W2138972275 date "2008-03-24" @default.
• W2138972275 modified "2023-10-18" @default.
• W2138972275 title "Cortical enlargement in autism is associated with a functional VNTR in the monoamine oxidase A gene" @default.
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• W2138972275 doi "https://doi.org/10.1002/ajmg.b.30738" @default.
• W2138972275 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/2752707" @default.
• W2138972275 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/18361446" @default.
• W2138972275 hasPublicationYear "2008" @default.
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