Related Experiment Video

Updated: May 1, 2026

Author Spotlight: Genetic Profiling for Fluorouracil Response in Gastric Cancer
06:21

Author Spotlight: Genetic Profiling for Fluorouracil Response in Gastric Cancer

Published on: May 10, 2024

1.6K

The methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and tumor risk: evidence from 134 case-control

Min Tang1, Shang-Qian Wang, Bian-Jiang Liu

  • 1Department of Urology, First Affiliated Hospital of Nanjing Medical University, Nanjing, China.

Molecular Biology Reports
|April 19, 2014
PubMed

Insights

The MTHFR C677T gene variant increases cancer risk, particularly esophageal and stomach cancers in Asian populations. Further research is needed to clarify its role and control for confounding factors.

Area of Science:

  • Genetics and Molecular Biology
  • Cancer Epidemiology
  • Nutritional Biochemistry

Background:

  • Methylenetetrahydrofolate reductase (MTHFR) is crucial for folate metabolism, DNA synthesis, and methylation.
  • Genetic variations in MTHFR, especially the C677T polymorphism, are linked to altered enzyme activity and cancer susceptibility.
  • Previous studies on MTHFR C677T and cancer risk have yielded inconsistent results.

Purpose of the Study:

  • To conduct a comprehensive meta-analysis evaluating the association between the MTHFR C677T polymorphism and overall cancer risk.
  • To investigate potential ethnic differences in this association, with a focus on Asian populations.
  • To identify specific cancer types linked to the MTHFR C677T polymorphism.

Main Methods:

  • A meta-analysis was performed, pooling data from 134 studies comprising 46,207 cancer cases and 69,160 controls.
  • Odds ratios (ORs) with 95% confidence intervals (CIs) were calculated to assess the risk associated with the MTHFR C677T polymorphism.
  • Stratified analyses were conducted based on ethnicity and specific cancer types.

Main Results:

  • A significant overall increased risk of cancer was associated with the MTHFR C677T polymorphism (T-allele vs. C-allele, homozygote, and dominant models).
  • Stratified analysis revealed a significantly increased cancer risk among Asian populations across most genetic models.
  • The MTHFR C677T polymorphism was significantly associated with an elevated risk of esophageal and stomach cancers.

Conclusions:

  • This meta-analysis provides evidence supporting a link between the MTHFR C677T polymorphism and increased risk of esophageal and stomach cancers, particularly in Asians.
  • The findings highlight the importance of considering ethnic background in genetic association studies of MTHFR and cancer.
  • Further high-quality studies are recommended to confirm these findings and elucidate the role of MTHFR C677T in cancer development, controlling for heterogeneity.

More Related Videos

Generation of High Quality Chromatin Immunoprecipitation DNA Template for High-throughput Sequencing ChIP-seq09:52

Generation of High Quality Chromatin Immunoprecipitation DNA Template for High-throughput Sequencing ChIP-seq

Published on: April 19, 2013

23.8K
Efficient Purification and LC-MS/MS-based Assay Development for Ten-Eleven Translocation-2 5-Methylcytosine Dioxygenase10:33

Efficient Purification and LC-MS/MS-based Assay Development for Ten-Eleven Translocation-2 5-Methylcytosine Dioxygenase

Published on: October 15, 2018

7.3K

Related Concept Videos

Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase01:11

Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase

Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
81
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
159
Pharmacogenetics of Phase II Enzymes: N-acetyltransferase, Thiopurine S-methyltransferase, UDP-glucuronosyltransferase01:27

Pharmacogenetics of Phase II Enzymes: N-acetyltransferase, Thiopurine S-methyltransferase, UDP-glucuronosyltransferase

Phase II biotransformation reactions are essential for detoxifying and eliminating xenobiotics, including many pharmaceutical compounds. These reactions typically involve conjugation, the covalent attachment of polar endogenous groups such as glucuronic acid, sulfate, methyl, or acetyl moieties to functional groups introduced during Phase I metabolism. The resulting conjugates are more water-soluble, enabling efficient renal or biliary excretion.The major classes of Phase II enzymes include...
94
Mismatch Repair01:20

Mismatch Repair

Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...
5.4K
Mismatch Repair01:36

Mismatch Repair

Overview
38.1K
Cancer Prevention02:59

Cancer Prevention

Several factors can increase the risk of cancer in an individual. About 50% of cancer cases can be prevented by adopting a healthy lifestyle, regular exercise, eating healthy, and following a modest cancer prevention diet. Epidemiological studies have consistently shown that populations with vegetable and fruit-rich diets have reduced the incidence of cancer. On the other hand, populations who have a diet rich in animal fat, red meat, junk food, or high calories are predisposed to cancer.
Some...
6.5K