The relationship between methylenetetrahydrofolate reductase polymorphism and hematological malignancy

Area of Science:

• Genetics
• Oncology
• Molecular Biology

Background:

• Methylenetetrahydrofolate reductase (MTHFR) is crucial for folate metabolism.
• MTHFR single nucleotide polymorphisms (SNPs), C677T and A1298C, are implicated in various cancer susceptibilities.
• Limited research exists on MTHFR SNPs and hematological malignancy risk in Chinese populations.

Purpose of the Study:

• To investigate the association between MTHFR C677T and A1298C polymorphisms and hematological malignancy risk.
• To analyze SNP frequency distribution in the Jiangsu province population of China.
• To identify specific MTHFR genotypes linked to increased susceptibility to hematological malignancies.

Main Methods:

• Gene microarray analysis was employed to detect MTHFR C677T and A1298C SNPs.
• The study included 157 healthy controls and 127 patients with hematological malignancies from Jiangsu province.
• Patient subgroups included multiple myeloma, non-Hodgkin's lymphoma, acute lymphoblastic leukemia, acute myeloid leukemia, and chronic myeloid leukemia.

Main Results:

• The allele frequency of 677T was significantly higher in patients (41.3%) than controls (33.1%).
• The MTHFR 677TT genotype was associated with a higher susceptibility to hematological malignancy (OR 1.96).
• The 677TT genotype and 1298CC genotype were linked to increased risk for multiple myeloma and myeloid leukemia, respectively.

Conclusions:

• MTHFR C677T polymorphisms significantly influence hematological malignancy risk in the Jiangsu population.
• Both MTHFR 677TT and MTHFR 1298CC genotypes are associated with increased susceptibility to myeloid leukemia.
• No significant associations were found for other hematological malignancies studied, such as acute lymphoblastic leukemia, acute myeloid leukemia, or non-Hodgkin's lymphoma.