Cited by 62Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental DisordersFolate and B Vitamins Research

Population- and Family-Based Studies Associate the MTHFR Gene with Idiopathic Autism in Simplex Families

Liu, Xudong, Solehdin, Fatima, Cohen, Ira L., Gonzalez, Maripaz G., Jenkins, Edmund C., Lewis, M. E. Suzanne, Holden, Jeanette J. A.·2011·Journal of Autism and Developmental Disorders

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.

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Crossref · 10.1007/s10803-010-1120-x

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49 of 49 references verified0 citation errors · 0 not checkable

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  • Several studies have reported an association of ASD with single-nucleotide polymorphisms in a gene which is directly involved in methylation.

    “several studies have reported an association of ASD with single-nucleotide polymorphisms in a gene which is directly involved in methylation”

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Authors
Liu, X., Solehdin, F., Cohen, I. L., Gonzalez, M. G., Jenkins, E. C., Lewis, M. E. S., & Holden, J. J. A.
Affiliations
  • Queen's University (CA)
  • University of British Columbia (CA)
Corresponding author
Holden, Jeanette J. A.
Venue
Journal of Autism and Developmental Disorders
Published
2010-11-12
Volume
41
Issue
7
Pages
938-944
ISSN
  • 0162-3257 (ISSN-L)
  • 1573-3432
OpenAlex
W2029074253
Cited by
62
References
49
Citations by year
2025: 3 · 2024: 3 · 2023: 2 · 2022: 2 · 2021: 3 · 2020: 6 · 2019: 6 · 2018: 6 · 2017: 4 · 2016: 5 · 2015: 3 · 2014: 7 · 2013: 7 · 2012: 4
FWCI
2.33
Type
journal article
Language
en
Open access
closed
Locations
  • Journal of Autism and Developmental Disorders (publishedVersion)
  • PubMed (publishedVersion)
Funders
  • Office for People With Developmental Disabilities
  • Michael Smith Health Research BC
  • Canadian Institutes of Health Research (43820_1)
  • National Institute of Mental Health (MH 64547, R01MH064547)
Topics
  • Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
  • Health Sciences › Medicine › Rheumatology › Folate and B Vitamins Research
Keywords
MTHFR, methylenetetrahydrofolate reductase, idiopathic autism, autism spectrum disorder, simplex families, multiplex families, genetic association, folate metabolism, genetic risk
MeSH terms
Alleles, Autistic Disorder, Child, Female, Gene Frequency, Genotype, Haplotypes, Humans, Male, Polymorphism, Single Nucleotide, Methylenetetrahydrofolate Reductase (NADPH2), Genetic Association Studies

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