Abstract
Previous observational studies investigating the association between methylenetetrahydrofolate reductase (MTHFR) polymorphisms and acute myeloid leukemia risk (AML) have yielded inconsistent results. The aim of this study is to derive a more precise estimation of the association between MTHFR (C677T and A1298C) polymorphisms and acute myeloid leukemia risk. PubMed and Embase databases were systematically searched to identify relevant studies from their inception to August 2013. Odds ratios (ORs) with 95% confidence intervals (CIs) were the metric of choice. Thirteen studies were selected for C677T polymorphism (1838 cases and 5318 controls) and 9 studies (1335 patients and 4295 controls) for A1298C polymorphism. Overall, pooled results showed that C677T polymorphism was not significant associated with AML risk(OR, 0.98–1.04; 95% CI, 0.86–0.92 to 1.09–1.25). Similar results were observed for the A1298C polymorphism and in subgroup analysis. All comparisons revealed no substantial heterogeneity nor did we detect evidence of publication bias. In summary, this meta-analysis provides evidence that MTHFR polymorphisms were not associated with AML risk. Further investigations are needed to offer better insight into the role of these polymorphisms in AML carcinogenesis.
Highlights
Worldwide, an estimated 57 000 cases of leukemia occur every year [1] and acute myeloid leukemia (AML) is the most common acute leukemia (AL)
methylenetetrahydrofolate reductase (MTHFR) plays a pivotal role in the folate metabolism, it can catalyze the irreversible conversion of 5, 10-methylenetrahydrofolate to 5methylenetrahydrofolate, which participates in the remethylation of homocysteine to methionine [12]
C677T polymorphism occurs in exon4, which leads alanine to be substituted by valine at codon222
Summary
An estimated 57 000 cases of leukemia occur every year [1] and acute myeloid leukemia (AML) is the most common acute leukemia (AL). Two common polymorphisms in MTHFR, C677T and A1298C, have been associated with reduced enzyme activity of MTHFR, which lead to an accumulation of 5, 10-methylenetetrahydrofolate and DNA hypomethylation. People with the homozygous MTHFR 677TT genotype have 30 percent enzyme activity compared with those having wild-type allele, while those with heterozygous MTHFR 677 CT allele have 60 percent enzyme activity [11] This polymorphism promotes the separation of enzyme from its co-factor, which results in the enzyme activity decrease [13]. Another important polymorphism in the MTHFR gene is A1298C in exon, which leads to a glutamate-toalanine (A.C) change and reduced enzyme activity of MTHFR
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