Document Type : Original Article


1 Department of Medical Biotechnology, Faculty of Advanced Science and Technology, Tehran Medical Sciences, Islamic Azad University, Tehran, Iran.

2 Personalized Medicine Research Center of AmitisGen, Tehran, Iran


In general, people with Autism Spectrum Disorders (ASD) have problems in social, emotional, and communication skills. Genome-Wide Association Studies (GWAS) have suggested a potential association of the C677T polymorphism of Methylenetetrahydrofolate Reductase (MTHFR) with autism spectrum disorders. The present study intended to investigate the relationship between this polymorphism of MTHFR and the severity of autism symptoms in two groups of children affected by autism and healthy children to elucidate its potential role as a risk factor for ASD.
study included 40 patients with autism and 40 healthy participants with matched age as control. The samples from the participants underwent ARMS-PCR for MTHFR genotyping.  
The CC genotype was reported in 50% (n=20) and 72.50% (n=29) of the children in the study and control groups, respectively, while the CT genotype was observed in 35% (n=14) of the study group and 17.50% (n=7) of the control group. Also, 15% (n=6) of the study group and 10% (n=4) of the control group had the TT genotype.
According to our results, the genotype distribution and allele prevalence were significantly different between the groups.