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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 ( P  < 0.001 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.

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