Testing for association of the monoamine oxidase A promoter polymorphism with brain structure volumes in both autism and the fragile X syndrome Public Deposited

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Creator
  • Hazlett, Heather
    • Affiliation: School of Medicine, Department of Psychiatry
  • Piven, Joseph
    • Affiliation: School of Medicine, Department of Psychiatry
Abstract
  • Abstract Background Autism and the fragile X syndrome (FXS) are related to each other genetically and symptomatically. A cardinal biological feature of both disorders is abnormalities of cerebral cortical brain volumes. We have previously shown that the monoamine oxidase A (MAOA) promoter polymorphism is associated with cerebral cortical volumes in children with autism, and we now sought to determine whether the association was also present in children with FXS. Methods Participants included 47 2-year-old Caucasian boys with FXS, some of whom also had autism, as well as 34 2-year-old boys with idiopathic autism analyzed in a previous study. The MAOA promoter polymorphism was genotyped and tested for relationships with gray and white matter volumes of the cerebral cortical lobes and cerebro-spinal fluid volume of the lateral ventricles. Results MAOA genotype effects in FXS children were the same as those previously observed in idiopathic autism: the low activity MAOA promoter polymorphism allele was associated with increased gray and white matter volumes in all cerebral lobes. The effect was most pronounced in frontal lobe gray matter and all three white matter regions: frontal gray, F = 4.39, P = 0.04; frontal white, F = 5.71, P = 0.02; temporal white, F = 4.73, P = 0.04; parieto-occipital white, F = 5.00, P = 0.03. Analysis of combined FXS and idiopathic autism samples produced P values for these regions <0.01 and effect sizes of approximately 0.10. Conclusions The MAOA promoter polymorphism is similarly associated with brain structure volumes in both idiopathic autism and FXS. These data illuminate a number of important aspects of autism and FXS heritability: a genetic effect on a core biological trait of illness, the specificity/generalizability of the genetic effect, and the utility of examining individual genetic effects on the background of a single gene disorder such as FXS.
Date of publication
DOI
Identifier
  • 24669826
  • doi:10.1186/1866-1955-6-6
Resource type
  • Article
Rights statement
  • In Copyright
Rights holder
  • Thomas H Wassink et al.; licensee BioMed Central Ltd.
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Journal title
  • Journal of Neurodevelopmental Disorders
Journal volume
  • 6
Journal issue
  • 1
Page start
  • 6
Language
  • English
Is the article or chapter peer-reviewed?
  • Yes
ISSN
  • 1866-1955
Bibliographic citation
  • Journal of Neurodevelopmental Disorders. 2014 Mar 26;6(1):6
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  • Open Access
Publisher
  • BioMed Central Ltd
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