Genetic variants of neurotransmitter-related genes and miRNAs in Egyptian autistic patients.
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.
Department of Biochemistry, Ain Shams University, Cairo, Egypt.
Ahmed M
AM
Salem
Department of Clinical Genetics, National Research Centre, Giza, Egypt.
Samira
S
Ismail
Department of Molecular Genetics, National Research Centre, Giza, Egypt.
Waheba A
WA
Zarouk
Department of Child Psychiatry, Ain Shams University, Cairo, Egypt.
Olwya
O
Abdul Baky
Department of Biochemistry, Ain Shams University, Cairo, Egypt.
Ahmed A
AA
Sayed
Department of Molecular Genetics, National Research Centre, Giza, Egypt.
Sawsan
S
Abd El-Hamid
Department of Molecular Genetics, National Research Centre, Giza, Egypt.
Sohair
S
Salem
D000328:Adult; D001321:Autistic Disorder / Q000453:epidemiology* / Q000235:genetics*; D002675:Child, Preschool; D004534:Egypt / Q000453:epidemiology; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D008297:Male; D035683:MicroRNAs / Q000235:genetics*; D018377:Neurotransmitter Agents / Q000235:genetics*; D010290:Parents; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D015995:Prevalence; D012307:Risk Factors; D055815:Young Adult
D005819:Genetic Markers; D035683:MicroRNAs; D018377:Neurotransmitter Agents