Catechol-O-methyltransferase Val158Met polymorphism and hyperactivity symptoms in Egyptian children with autism spectrum disorder

•Significant association between COMT (Val) genotype and increasing CARS score.•Significant association between COMT (Val) genotype and hyperactivity scores.•The DSM-IV hyperactive impulsive were significantly higher in Val/Val genotype than Met/Val genotype and Met/Met genotype. Catechol-O-methyltr...

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Bibliographic Details
Published in:Research in developmental disabilities 2013-07, Vol.34 (7), p.2092-2097
Main Authors: Karam, Rehab A., Rezk, Noha A., Abdelrahman, Hadeel M., Hassan, Tamer H., Mohammad, Doaa, Hashim, Haitham M., Fattah, Nelly R.A. Abdel
Format: Article
Language:English
Subjects:
Attention-deficit/hyperactivity disorder
Autism spectrum disorder
Case-Control Studies
Catechol O-Methyltransferase - genetics
Child
Child Development Disorders, Pervasive - genetics
COMT
Egypt
Gene polymorphism
Genetic Association Studies
Genetic Predisposition to Disease
Genotype
Humans
Methionine - genetics
Valine - genetics
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Summary:•Significant association between COMT (Val) genotype and increasing CARS score.•Significant association between COMT (Val) genotype and hyperactivity scores.•The DSM-IV hyperactive impulsive were significantly higher in Val/Val genotype than Met/Val genotype and Met/Met genotype. Catechol-O-methyltransferase (COMT) plays an important role in the catabolism of brain dopamine and norepinephrine, which have been implicated in the pathogenesis of Autism spectrum disorder (ASD) as well as in other neuropsychatric disorders. We aimed to investigate the association of COMT Val158Met gene polymorphism with ASD and to examine the influence of such genotypes on hyperactivity symptoms in ASD patients. Eighty ASD patients (mean age 9±1.9 years) and 100 control children (mean age 8.9±1.9 years) were examined. COMT Val58Met polymorphism was genotyped using Tetra-primer ARMS-PCR method. The clinical diagnosis of ASD and ADHD were confirmed according to the DSM-IV criteria for research. We found no significant difference in genotypes or alleles’ frequencies of COMT Val158Met polymorphism between ASD patients and control group. There was a significant association between COMT (Val/Val) genotype and both increasing CARS (p=0.001) and hyperactivity scores (p=0.006). Regarding Conner's Score, the DSM-IV hyperactive impulsive were significantly higher in Val/Val genotype than both Met/Val and Met/Met genotypes (p=0.03). Our data suggested an association between COMT Val58Met polymorphism and hyperactivity symptoms in Egyptian children with ASD.
ISSN:0891-4222
1873-3379
DOI:10.1016/j.ridd.2013.04.002