Related Experiment Video
Updated: Aug 8, 2025

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging
Published on: July 14, 2016
MTHFR C677T polymorphism, homocysteine, burden, and location of AMI and ACI
1Department of Geriatrics, The First Hospital of Jilin University, Changchun, China. hui_ying@jlu.edu.cn.
Insights
Elevated homocysteine levels are linked to acute ischemic vascular events, with MTHFR C677T polymorphisms and folic acid influencing these correlations. The MTHFR C677T polymorphism itself is not directly associated with these events.
Area of Science:
- Cardiovascular Research
- Genetics
- Nutritional Science
Background:
- Elevated homocysteine levels are a known risk factor for atherosclerosis-related vascular events.
- The methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism is investigated for its role in homocysteine metabolism.
- Understanding these relationships is crucial for managing acute ischemic vascular events like acute myocardial infarction (AMI) and acute cerebral infarction (ACI).
Purpose of the Study:
- To investigate the relationship between homocysteine levels, MTHFR C677T polymorphisms, and acute ischemic vascular events.
- To examine the differential effects of MTHFR C677T polymorphisms on the severity and location of AMI and ACI.
Main Methods:
- A case-control study involving 102 patients with ACI/AMI and 83 healthy controls.
- MTHFR C677T genotypes were determined using the Polymerase Chain Reaction (PCR)-Fluorescent Probe Method.
- Serum homocysteine, folic acid, and vitamin B12 levels were measured.
Main Results:
- Patients exhibited higher homocysteine and lower folic acid and vitamin B12 levels compared to controls.
- Individuals with the TT genotype of MTHFR C677T had higher homocysteine and lower folic acid levels.
- No significant difference in MTHFR C677T genotype distribution was found between patients and controls.
- The MTHFR C677T polymorphism did not significantly alter the burden or location of AMI and ACI.
Conclusions:
- Homocysteine plays a role in acute ischemic vascular events, with its association modified by MTHFR C677T polymorphisms and influenced by folic acid levels.
- MTHFR C677T polymorphisms are not directly linked to the occurrence of acute ischemic vascular events.
- The MTHFR C677T polymorphism does not differentially impact the burden or location of AMI and ACI.
Objective:
We aimed to investigate the relationship between homocysteine levels and MTHFR C677T polymorphisms and acute ischemic vascular events and focused on the differential effects of the MTHFR C677T polymorphisms on the burden and location of AMI and ACI.
Patients And Methods:
102 acute cerebral infarction (ACI) and acute myocardial infarction (AMI) patients who were admitted to the First Hospital of Jilin University in northeast China as the patient group, 83 healthy people who were hospitalized during the same period served as a control group. MTHFR C677T genotypes were identified via Polymerase Chain Reaction (PCR)-Fluorescent Probe Method.
Results:
Patient group had higher serum homocysteine levels (p=0.013), lower serum folic acid (p<0.001), and Vit B12 levels (p=0.004) compared to the control group. Homocysteine levels in the patient group with the TT genotypes of the MTHFR C677T polymorphisms were higher than those with the CC and CT genotypes (p<0.05). Folic acid levels in the patients with TT genotypes were lower than those with the CC genotypes (p<0.05), but not in the control group (p>0.05). There were negative and significant associations between serum homocysteine levels and serum vitamin B12 levels in the control group (r=-0.234, p=0.033), but not between serum homocysteine levels and serum folic acid levels (r=-0.103, p=0.355). Conversely, there was a negative and significant association between serum homocysteine levels and serum folic acid levels in the patients' group (r=-0.257, p=0.01), but not between serum homocysteine levels and serum vitamin B12 levels (r=-0.185, p=0.64). No statistically significant differences in MTHFR C677T genotype and C/T alleles distribution were investigated between the patient and control group (p>0.05). The MTHFR C677T polymorphism did not differentially affect the burden and location of AMI and ACI.
Conclusions:
Homocysteine played a common role in atherosclerosis-related acute ischemic vascular events. These correlations were modified by MTHFR C677T polymorphisms and influenced by folic acid levels. The MTHFR C677T polymorphisms were not directly related to acute ischemic vascular events, nor did they differentially affect the burden and location of AMI and ACI.
More Related Videos
06:21Author Spotlight: Genetic Profiling for Fluorouracil Response in Gastric Cancer
Published on: May 10, 2024
07:26High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment
Published on: July 18, 2017
Related Concept Videos
Translation
Translation Produces the Building Blocks of Life
Proteins are...
Mismatch Repair
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...
Multiple Allele Traits
Blood Studies for Cardiovascular System II: CRP, Hcy, and Cardiac Natriuretic Peptide Markers
These markers indicate stress or strain on the heart muscle:
Natriuretic Peptides (BNP)
Cardiac myocytes produce these hormones in response to ventricular stretching...
Human Genetics
The complex relationship between genetics and psychology is observable through common biological components such...
RNA Editing