ArticleJournal of autism and developmental disorders2011
Population- and family-based studies associate the MTHFR gene with idiopathic autism in simplex families.
Article in Journal of autism and developmental disorders, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 3 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
26 citing papers in PubMed, 3 syntheses or guidelines pooled it, 62 citations in OpenAlex.
- A systematic review of common genetic variation and biological pathways in autism spectrum disorder.BMC neuroscience · 2021Pooled it
- Association between MTHFR C677T/A1298C and susceptibility to autism spectrum disorders: a meta-analysis.BMC pediatrics · 2020Pooled it
- Association of methylenetetrahydrofolate reductase (MTHFR) gene C677T polymorphism with autism: evidence of genetic susceptibility.Metabolic brain disease · 2016Pooled it
- Safety and Efficacy of High-Dose Folinic Acid in Children with Autism: The Impact of Folate Metabolism Gene Polymorphisms.Nutrients · 2025Trial
- The Contribution of Ethnicity to the Association ofBrain sciences · 2026Review
- Article
- DNA Methylation in Autism Spectrum Disorders: Biomarker or Pharmacological Target?Brain sciences · 2024Review
- Genetic impairment of folate metabolism regulates cortical interneurons and social behavior.Frontiers in neuroscience · 2023Article
- Review
- Treatment of Folate Metabolism Abnormalities in Autism Spectrum Disorder.Seminars in pediatric neurology · 2020Review
- The influence of choline treatment on behavioral and neurochemical autistic-like phenotype in Mthfr-deficient mice.Translational psychiatry · 2020Article
- Pharmacodynamic Gene Testing in Prader-Willi Syndrome.Frontiers in genetics · 2020Article
- Methylenetetrahydrofolate Reductase Gene Variants Confer Potential Vulnerability to Autism Spectrum Disorder in a Saudi Community.Neuropsychiatric disease and treatment · 2019Article
- Prenatal Nutritional Intervention Reduces Autistic-Like Behavior Rates AmongFrontiers in neuroscience · 2019Article
- Diagnostic and Severity-Tracking Biomarkers for Autism Spectrum Disorder.Journal of molecular neuroscience : MN · 2018Review
- Social Skills Deficits in Autism Spectrum Disorder: Potential Biological Origins and Progress in Developing Therapeutic Agents.CNS drugs · 2018Review
- Association Study of Polymorphisms in Genes Relevant to Vitamin B12 and Folate Metabolism with Childhood Autism Spectrum Disorder in a Han Chinese Population.Medical science monitor : international medical journal of experimental and clinical research · 2018Article
- Helicobacter pylori moderates the association between 5-MTHF concentration and cognitive function in older adults.PloS one · 2018Article
- Study of the C677T and 1298AC polymorphic genotypes of MTHFR Gene in autism spectrum disorder.Electronic physician · 2017Article
- Bio-collections in autism research.Molecular autism · 2017Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 5 institutions in 2 countries.
Funding
Abstract
Two methylenetetrahydrofolate reductase gene (MTHFR) functional polymorphisms were studied in 205 North American simplex (SPX) and 307 multiplex (MPX) families having one or more children with an autism spectrum disorder. Case-control comparisons revealed a significantly higher frequency of the low-activity 677T allele, higher prevalence of the 677TT genotype and higher frequencies of the 677T-1298A haplotype and double homozygous 677TT/1298AA genotype in affected individuals relative to controls. Family-based association testing demonstrated significant preferential transmission of the 677T and 1298A alleles and the 677T-1298A haplotype to affected offspring. The results were not replicated in MPX families. 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.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.