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MTHFR gene polymorphism and risk of myeloid leukemia: a meta-analysis
Song Dong1, Yueling Liu, Jieping Chen
1Department of Hematology, Southwest Hospital, Third Military Medical University, 30 Gaotanyan Street, Chongqing, 400038, China.
Abstract:
An increasing body of evidence has shown that the amino acid changes at position 1298 might eliminate methylenetetrahydrofolate reductase (MTHFR) enzyme activity, leading to insufficient folic acid and subsequent human chromosome breakage. Epidemiological studies have linked MTHFR single-nucleotide polymorphism (SNP) rs1801131 to myeloid leukemia risk, with considerable discrepancy in their results. We therefore were prompted to clarify this issue by use of a meta-analysis. The search terms were used to cover the possible reports in the MEDLINE, Web of Knowledge, and China National Knowledge Infrastructure (CNKI) databases. Odds ratios were estimated to assess the association of SNP rs1801131 with myeloid leukemia risk. Statistical heterogeneity was detected using the Q-statistic and I (2) metric. Subgroup analysis was performed by ethnicity, histological subtype, and Hardy-Weinberg equilibrium (HWE). This meta-analysis of eight publications with a total of 1,114 cases and 3,227 controls revealed no global association. Nor did the subgroup analysis according to histological subtype and HWE show any significant associations. However, Asian individuals who harbored the CC genotype were found to have 1.66-fold higher risk of myeloid leukemia (odds ratio, 1.66; 95 % confidence interval, 1.10 to 2.49; P h = 0.342; I (2) = 0.114). Our meta-analysis has presented evidence supporting a possible association between the CC genotype of MTHFR SNP rs1801131 and myeloid leukemia in Asian populations.
Insights
Genetic variations in methylenetetrahydrofolate reductase (MTHFR) may affect enzyme activity. This meta-analysis found no global link between MTHFR SNP rs1801131 and myeloid leukemia, but identified a higher risk in Asian populations with the CC genotype.
Area of Science:
- Genetics
- Molecular Biology
- Epidemiology
Background:
- Methylenetetrahydrofolate reductase (MTHFR) enzyme activity is crucial for folic acid metabolism.
- Amino acid changes at position 1298 of MTHFR may reduce enzyme function, potentially leading to chromosome breakage.
- Epidemiological studies have suggested a link between MTHFR single-nucleotide polymorphism (SNP) rs1801131 and myeloid leukemia risk, but results are inconsistent.
Purpose of the Study:
- To clarify the association between MTHFR SNP rs1801131 and myeloid leukemia risk through a comprehensive meta-analysis.
Main Methods:
- A meta-analysis was conducted using data from eight publications.
- Searches were performed in MEDLINE, Web of Knowledge, and CNKI databases.
- Odds ratios were calculated to assess the association, with heterogeneity assessed using the Q-statistic and I² metric. Subgroup analyses were performed by ethnicity, histological subtype, and Hardy-Weinberg equilibrium (HWE).
Main Results:
- The overall meta-analysis of 1,114 cases and 3,227 controls revealed no significant global association between MTHFR SNP rs1801131 and myeloid leukemia.
- Subgroup analyses by histological subtype and HWE also showed no significant associations.
- However, a significant association was observed in Asian individuals, where the CC genotype of MTHFR SNP rs1801131 was linked to a 1.66-fold increased risk of myeloid leukemia (OR = 1.66, 95% CI: 1.10–2.49).
Conclusions:
- The meta-analysis suggests no overall association between MTHFR SNP rs1801131 and myeloid leukemia risk.
- A potential increased risk of myeloid leukemia associated with the CC genotype of MTHFR SNP rs1801131 was identified specifically within the Asian population.
- Further research may be warranted to explore ethnic-specific genetic factors in myeloid leukemia development.
