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The Scientific World Journal
Volume 2013, Article ID 670621, 7 pages
Research Article

Genetic Variants of Neurotransmitter-Related Genes and miRNAs in Egyptian Autistic Patients

1Department of Biochemistry, Ain Shams University, Cairo, Egypt
2Department of Clinical Genetics, National Research Centre, Giza, Egypt
3Department of Molecular Genetics, National Research Centre, Giza, Egypt
4Department of Child Psychiatry, Ain Shams University, Cairo, Egypt

Received 28 August 2013; Accepted 1 October 2013

Academic Editors: K. Csiszar, S. Mastana, and J. L. Vilotte

Copyright © 2013 Ahmed M. Salem et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Autism is a neurodevelopmental disorder with indisputable evidence for a genetic component. This work studied the association of autism with genetic variations in neurotransmitter-related genes, including MAOA uVNTR, MAOB rs1799836, and DRD2 TaqI A in 53 autistic patients and 30 healthy individuals. The study also analyzed sequence variations of miR-431 and miR-21. MAOA uVNTR was genotyped by PCR, MAOB and DRD2 polymorphisms were analyzed by PCR-based RFLP, and miR-431 and miR-21 were sequenced. Low expressing allele of MAOA uVNTR was frequently higher in female patients compared to that in controls (OR = 2.25). MAOB G allele frequency was more significantly increased in autistic patients than in controls ( for both males and females). DRD2 A1+ genotype increased autism risk (OR = 5.1). Severity of autism tends to be slightly affected by MAOA/B genotype. Plasma MAOB activity was significantly reduced in G than in A allele carrying males. There was no significant difference in patients and maternal plasma MAOA/B activity compared to controls. Neither mutations nor SNPs in miR-431 and miR-21 were found among studied patients. This study threw light on some neurotransmitter-related genes suggesting their potential role in Autism pathogenesis that warrants further studies and much consideration.