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Association between MTHFR C677T/A1298C and susceptibility to autism spectrum disorders: a meta-analysis

Yan Li1, Shuang Qiu1, Jikang Shi1

  • 1Department of Epidemiology and Biostatistics, School of Public Health, Jilin University, Changchun, 130021, China.

BMC Pediatrics
|September 25, 2020
PubMed
Abstract

Insights

The MTHFR C677T polymorphism is linked to autism spectrum disorder (ASD) susceptibility. However, the MTHFR A1298C polymorphism shows no significant association with ASD risk.

Area of Science:

  • Genetics
  • Neuroscience
  • Metabolic Disorders

Background:

  • Autism spectrum disorder (ASD) prevalence is rising.
  • Methylenetetrahydrofolate reductase (MTHFR) plays a key role in folate metabolism.
  • Previous studies on MTHFR gene polymorphisms and ASD susceptibility lack conclusive evidence.

Purpose of the Study:

  • To clarify the association between MTHFR gene single nucleotide polymorphisms (SNPs) and ASD susceptibility.
  • To resolve inconsistencies in existing research through a comprehensive meta-analysis.

Main Methods:

  • A meta-analysis was performed on 15 manuscripts published up to January 26, 2020.
  • Searches were conducted across PubMed, Google Scholar, Medline, WangFang, and CNKI databases.
  • Keywords included "MTHFR", "ASD", "Autism Spectrum Disorders", "polymorphism", "C677T", and "A1298C".

Main Results:

  • MTHFR C677T polymorphism demonstrated a significant association with ASD across five genetic models (allelic, dominant, recessive, heterozygote, homozygote).
  • MTHFR A1298C polymorphism did not show a significant relationship with ASD in the analyzed genetic models.
  • Subgroup and sensitivity analyses confirmed the stability and reliability of the findings, with no significant publication bias for C677T.

Conclusions:

  • MTHFR C677T polymorphism is identified as a susceptibility factor for ASD.
  • MTHFR A1298C polymorphism is not significantly associated with ASD susceptibility.
Keywords:
Autism spectrum disorderGenetic modelsMeta-analysisMethylenetetrahydrofolate reductaseSingle nucleotide polymorphisms

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