Related Experiment Video
Updated: Jul 18, 2026

Multi-Gene Single Nucleotide Polymorphism Detection in Gastric Cancer Based on Ion Semiconductor Sequencing Platform
Published on: May 10, 2024
Folate metabolic gene polymorphisms and childhood acute lymphoblastic leukemia: a case-control study
1Division of Molecular Genetic Epidemiology, German Cancer Research Center, Heidelberg, Germany.
Genetic variations in the 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR) gene are linked to childhood acute lymphoblastic leukemia (ALL) risk. Specific MTRR haplotypes show significant associations with altered ALL risk in children.
Area of Science:
- Genetics
- Molecular Biology
- Pediatric Oncology
Background:
- Folate metabolism plays a crucial role in DNA synthesis and repair, processes vital for preventing cancer development.
- Genetic variations in folate pathway genes may influence susceptibility to various cancers, including childhood acute lymphoblastic leukemia (ALL).
- The 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR) gene is a key enzyme in the folate pathway.
Purpose of the Study:
- To investigate the association between polymorphisms in folate metabolic pathway genes and the risk of childhood acute lymphoblastic leukemia (ALL).
- To specifically examine the role of the 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR) gene and its haplotypes in childhood ALL susceptibility.
Main Methods:
- Genotyping of 11 polymorphisms across six folate metabolic pathway genes in 460 childhood ALL cases and 552 controls.
- Statistical analysis including gender-adjusted global P-values, multiple-testing correction, and haplotype distribution analysis.
- Genotype-combination analyses were performed to identify the best predictive model for ALL risk.
Main Results:
- The 66A>G (I22M) polymorphism in the MTRR gene showed a marginal association with decreased ALL risk (P=0.03).
- Significant differences in MTRR haplotype distributions were observed between ALL cases and controls (P<0.0001).
- Specific MTRR haplotypes (GCAC, ATAC) were associated with reduced risk, while others (ACAC, GTAC) were linked to increased risk.
Conclusions:
- While the 66A>G polymorphism in MTRR shows a weak association, MTRR gene haplotypes appear to significantly influence childhood ALL risk.
- These findings suggest that variations within the MTRR gene may contribute to population-based differences in childhood ALL susceptibility.
- Further research into folate metabolism gene polymorphisms and their role in pediatric leukemia is warranted.
Related Concept Videos
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
Pharmacogenetics of Phase II Enzymes: N-acetyltransferase, Thiopurine S-methyltransferase, UDP-glucuronosyltransferase
Lethal Alleles
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
