Effects of MTHFR A1298C polymorphism on peripheral blood folate concentration in healthy populations: a meta-analysis of observational studies

source extracted confidence: high 2026-04-09
#female #folic-acid #gene-expression-regulation-enzymologic #genetic-predisposition-to-disease #humans

Effects of MTHFR A1298C polymorphism on peripheral blood folate concentration in healthy populations: a meta-analysis of observational studies

Xin et al., 2018 | Asia Pac J Clin Nutr | Meta Analysis

Citation

Xin Yu, Wu Lihua, ... Wang Li. Effects of MTHFR A1298C polymorphism on peripheral blood folate concentration in healthy populations: a meta-analysis of observational studies. Asia Pac J Clin Nutr. 2018;27(3):718-727. doi:10.6133/apjcn.122017.02

Abstract

BACKGROUND AND OBJECTIVES: Methylenetetrahydrofolate reductase (MTHFR) irreversibly converts 5,10- methylenetetrahydrofolate to 5-methyltetrahydrofolate, which is the main form of folate used in the body. Previous studies suggest that MTHFR polymorphism influences folate metabolism, but conflicting results are reported. We performed a meta-analysis to accurately characterize the association between MTHFR A1298C polymorphism and peripheral blood folate concentration in healthy populations. METHODS AND STUDY DESIGN: Studies focusing on MTHFR A1298C polymorphism and folate concentrations were identified and subjected to a metaanalysis using Review Manager 5.1. Standard mean differences (SMD) with 95% confidence intervals (95% CI) were used to assess the association between these variables. RESULTS: A total of 14 studies with 5616 healthy individuals were included in this meta-analysis. Significant differences in folate concentration were found in the MTHFR homozygote model (SMD=0.12, 95% CI=0.00-0.24, I2=17%, p=0.04) and the dominant model (SMD=0.07, 95% CI=0.01-0.14, I2=22%, p=0.02) in the general population excluding the elderly. While abnormal folate concentrations are more common in elderly, no association between MTHFR A1298C polymorphism and peripheral blood folate concentration was found in the meta-analysis when elderly were included. CONCLUSIONS: This meta-analysis indicates that, in the general population excluding the elderly, the C allele of MTHFR 1298 polymorphism is associated with the risk for an increased folate concentration.

Key Findings

A total of 14 studies with 5616 healthy individuals were included in this meta-analysis. Significant differences in folate concentration were found in the MTHFR homozygote model (SMD=0.12, 95% CI=0.00-0.24, I2=17%, p=0.04) and the dominant model (SMD=0.07, 95% CI=0.01-0.14, I2=22%, p=0.02) in the general population excluding the elderly. While abnormal folate concentrations are more common in elderly, no association between MTHFR A1298C polymorphism and peripheral blood folate concentration was

Outcomes Measured

  • Requires manual extraction

Population

Field Value
Population healthy populations
Sample Size 14
Age Range See abstract
Condition See abstract

MeSH Terms

  • Female
  • Folic Acid
  • Gene Expression Regulation, Enzymologic
  • Genetic Predisposition to Disease
  • Humans
  • Methylenetetrahydrofolate Reductase (NADPH2)
  • Observational Studies as Topic
  • Polymorphism, Single Nucleotide

Evidence Classification

  • Level: Meta Analysis
  • Publication Types: Journal Article, Meta-Analysis
  • Vertical: folate

Provenance

Source extracted via PubMed E-utilities API on 2026-04-09