Aberrations in folate metabolic pathway and altered susceptibility to autism
Abstract
OBJECTIVE: To investigate whether genetic polymorphisms are the underlying causes for aberrations in folate pathway that was reported in autistic children. BASIC METHODS: A total of 138 children diagnosed as autistic based on Diagnostic and Statistical Manual of Mental Disorders, fourth edition criteria and Autism Behavior Checklist scoring and 138 age and sex matched children who are nonautistic were tested for five genetic polymorphisms, that is, cytosolic serine hydroxyl methyl transferase (SHMT1 C1420T), methylene tetrahydrofolate reductase (MTHFR C677T and MTHFR A1298C), methionine synthase reductase (MTRR A66G), methionine synthase (MS A2756G) using PCR-restriction fragment length polymorphism methods. Fisher's exact test and logistic regression analysis were used for statistical analyses. RESULTS: MTHFR 677T-allele frequency was found to be higher in autistic children compared with nonautistic children (16.3 vs. 6.5%) with 2.79-fold increased risk for autism [95% confidence interval (CI): 1.58-4.93]. The frequencies of MTRR 66A allele (12.7 vs. 21.0%) and SHMT 1420T allele (27.9 vs. 45.3%) were lower in autistic group compared with nonautistic group with odds ratios 0.55 (95% CI: 0.35-0.86) and 0.44 (95% CI: 0.31-0.62), respectively, indicating reduced risk. MTHFR 1298C-allele frequency was similar in both the groups (53.3 vs. 53.6%) and hence individually not associated with any risk. However, this allele was found to act additively in the presence of MTHFR 677T allele as evidenced by 8.11-fold (95% CI: 2.84-22.92) risk associated with MTHFR 677CT+TT/1298AC+CC genotypes cumulatively. CONCLUSION: MTHFR C677T is a risk factor, whereas MTRR A66G and SHMT C1420T polymorphisms reduce risk for autism. MTHFR A1298C acts additively in increasing the risk for autism.
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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”
From Autism risk factors: genes, environment, and gene-environment interactions (2012) · cites this paper as [74]
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Increased Vulnerability to Oxidative Stress and Mitochondrial Dysfunction in Autism
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Autism Spectrum Disorder: 70 Years on and the Plot Thickens
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EPIGENETIC PROGRAMMING AND FETAL GROWTH RESTRICTIONS
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GENE MTHFR C677T (rs1801133) E SUSCETIBILIDADE AO TRANSTORNO DO ESPECTRO AUTISTA (TEA)
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The Role of Genetic and Environmental Risk Factors in Aetiology of Suicidal Behaviour
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- Authors
- Mohammad, N. S., Jain, J. M. N., Chintakindi, K. P., Singh, R. P., Naik, U., & Akella, R. R. D.
- Affiliations
- Centre for DNA Fingerprinting and Diagnostics (IN)
- Niloufer Hospital (IN)
- Corresponding author
- Akella, Radha Rama Devi
- Venue
- Psychiatric Genetics
- Published
- 2009-08
- Volume
- 19
- Issue
- 4
- Pages
- 171-176
- ISSN
- 0955-8829 (ISSN-L)
- OpenAlex
- W2081106656
- Cited by
- 95
- References
- 35
- Citations by year
- 2026: 2 · 2025: 5 · 2024: 5 · 2023: 2 · 2021: 8 · 2020: 7 · 2019: 8 · 2018: 6 · 2017: 3 · 2016: 6 · 2015: 6 · 2014: 9 · 2013: 8 · 2012: 9
- FWCI
- 4.70
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Psychiatric Genetics (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Rheumatology › Folate and B Vitamins Research
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- autism spectrum disorder, folate metabolism, genetic polymorphism, MTHFR C677T polymorphism, MTHFR A1298C, MTRR A66G, methionine synthase, methionine synthase reductase, methylenetetrahydrofolate reductase, genetic susceptibility
- MeSH terms
- Alleles, Autistic Disorder, Child, Child, Preschool, Female, Folic Acid, Gene Frequency, Humans, Male, Case-Control Studies, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Methylenetetrahydrofolate Reductase (NADPH2), Metabolic Networks and Pathways
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