Corpus ID: 51825986

Association of MTHFR Gene Variants with Autism

@inproceedings{Boris2004AssociationOM,
  title={Association of MTHFR Gene Variants with Autism},
  author={Marvin Boris and Allan Goldblatt and Joseph A Galanko and S. Jill James},
  year={2004}
}
Autism is a complex neurodevelopment disorder with numerous possible genetic and environmental influences. We retrospectively examined the laboratory data of 168 children sequentially referred to our facility with a confirmed diagnosis of autism or pervasive developmental disabilities (PDD). Since folate and methylation (single carbon metabolism) are vital in neurological development, we routinely screened children for the common mutations of the methylenetetrahydrofolate reductase gene (MTHFR… Expand

Tables from this paper

Study of the C677T and 1298AC polymorphic genotypes of MTHFR Gene in autism spectrum disorder
TLDR
There is a significant association between severity and occurrence of autism with MTHFR gene polymorphisms C677T and A1298C among children with autism and among patients with severe autism (according to CARS). Expand
MTHFR Gene C677T Polymorphism in Autism Spectrum Disorders
TLDR
It is concluded that other MTHFR polymorphisms such as A1298C or other folate/homocysteine pathway genes may be studied to show their possible role in autism. Expand
Aberrations in folate metabolic pathway and altered susceptibility to autism
TLDR
MTHFR C677T is a risk factor, whereas MTRR A66G and SHMT C1420T polymorphisms reduce risk for autism, and this allele was found to act additively in the presence of MTHFR 677T allele. Expand
Study of genotype–phenotype correlation of methylene tetrahydrofolate reductase (MTHFR) gene polymorphisms in a sample of Egyptian autistic children
TLDR
The delayed motor and social milestones showed a statistically highly significant difference in cases of autism compared to controls, and the relation between low birth weight and occurrence of autism is highly significant. Expand
The MTHFR 677C→T polymorphism and behaviors in children with autism: exploratory genotype–phenotype correlations
TLDR
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Association of methylenetetrahydrofolate reductase (MTHFR) gene C677T polymorphism with autism: evidence of genetic susceptibility
  • V. Rai
  • Biology, Medicine
  • Metabolic Brain Disease
  • 2016
TLDR
The present meta-analysis strongly suggested a significant association of the MTHFR C677T polymorphism with autism. Expand
A contribution of Methylenetetrahydrofolate Reductase (MTHFR) genepolymorphisms in children with attention deficit hyperactivity disorder.
TLDR
There was an evident association between ADHD phenotype and MTHFR A1298C gene polymorphism, and there was a heterozygous advantage (Heterosis) regarding C677T allele genotype and ADHD cases leading to absence of association. Expand
Population- and Family-Based Studies Associate the MTHFR Gene with Idiopathic Autism in Simplex Families
TLDR
The results associate the MTHFR gene with autism in SPX families only, suggesting that reduced MTHfr activity is a risk factor for autism in these families. Expand
Association between MTHFR Gene Polymorphisms and the Risk of Autism Spectrum Disorders: A Meta‐Analysis
  • D. Pu, Yiping Shen, Jie Wu
  • Biology, Medicine
  • Autism research : official journal of the International Society for Autism Research
  • 2013
TLDR
It is indicated that the MTHFR C677T polymorphism contributes to increased ASD risk, and periconceptional folic acid may reduce ASD risk in those with MTH FR 677C>T polymorphisms. Expand
Methylenetetrahydrofolate Reductase Gene Variants Confer Potential Vulnerability to Autism Spectrum Disorder in a Saudi Community
TLDR
It is suggested that the 677C>T and 1298A>C SNPs add to each other for potential vulnerability to increase the risk of ASD, particularly if they can be confirmed in larger cohorts along with other genetic/environmental factors. Expand
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