Personalized and Precision Medicine Journal
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Association of C677T Single Nucleotide Polymorphism of MTHFR with Susceptibility to Autism Spectrum Disorders

Document Type : Original Article

Authors

Rafid A Abdulkareem 1
Abbas AL-Mashhadi 2

1 Department of Genetic Engineering and Biotechnology Institute, Baghdad University, Baghdad, Iraq

2 Medical Microbiology Branch College of Medicine, Kufa University Al-Najaf, Iraq

https://doi.org/10.22034/pmj.2021.243876
Abstract
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.

Keywords

Autism
MTHFR
ARMS-PCR
Genetic
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Personalized and Precision Medicine Journal
Volume 6, Issue 20
Original article
Winter 2021
Pages 9-11

  • Receive Date 29 December 2020
  • Revise Date 01 March 2021
  • Accept Date 10 February 2021

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