Related Experiment Video
Updated: Oct 20, 2025
Author Spotlight: Genetic Profiling for Fluorouracil Response in Gastric Cancer
Published on: May 10, 2024
Relationship between MTHFR gene polymorphism and susceptibility to bronchial asthma and glucocorticoid efficacy in
Min Li1, Yu Tang1, Er-Yao Zhao1
1Department of Respiratory Medicine, Children's Hospital Affiliated to Zhengzhou University/Henan Children's Hospital/Zhengzhou Children's Hospital, Zhengzhou 450018, China.
Insights
Methylenetetrahydrofolate reductase (MTHFR) gene variations increase childhood asthma risk. The TT genotype is linked to higher asthma susceptibility and better response to glucocorticoid treatment in children.
Area of Science:
- Genetics
- Pediatrics
- Respiratory Medicine
Background:
- Methylenetetrahydrofolate reductase (MTHFR) gene polymorphism is implicated in various diseases.
- Understanding MTHFR's role in childhood asthma is crucial for targeted therapies.
Purpose of the Study:
- To investigate the association between MTHFR gene polymorphism and childhood bronchial asthma susceptibility.
- To evaluate the impact of MTHFR genotypes on glucocorticoid (GC) treatment efficacy in pediatric asthma patients.
Main Methods:
- Genotyping of MTHFR C677T polymorphism using PCR in 173 asthmatic children and 178 healthy controls.
- Analysis of genotype distribution, immunoglobulin E (IgE), interleukin-8 (IL-8), leukotriene B4 (LTB4), lung function, and clinical outcomes before and after GC therapy.
Main Results:
- TT genotype and T allele were significantly more prevalent in asthmatic children, identifying them as risk factors (OR=6.615, P<0.001).
- GC treatment improved lung function and reduced inflammatory markers across all genotypes (P<0.001).
- Children with TT genotype exhibited enhanced GC efficacy, with lower IL-8 and LTB4 levels and improved lung function parameters (P<0.05).
Conclusions:
- MTHFR gene polymorphism is significantly associated with both asthma susceptibility and glucocorticoid efficacy in children.
- The TT/CT genotypes increase the risk of developing asthma in children.
- The TT genotype indicates a heightened sensitivity to glucocorticoid treatment, suggesting personalized therapeutic approaches.
Objectives:
To study the association of methylenetetrahydrofolate reductase (MTHFR) gene polymorphism with susceptibility to bronchial asthma and glucocorticoid (GC) efficacy in children.
Methods:
A total of 173 children with bronchial asthma who were hospitalized between June 2018 and December 2020 were selected as the observation group. The children received aerosol inhalation of GC for three consecutive months. A total of 178 healthy children who underwent physical examination during the same period were selected as the control group. PCR was used to detect the genotypes of the MTHFR C677T for the two groups. The differences in genotype distribution between the two groups were analyzed. Children with different genotypes in the observation group were compared in terms of immunoglobulin E (IgE), interleukin-8 (IL-8), leukotriene B4 (LTB4), lung function, and clinical outcome before and after treatment.
Results:
TT genotype and T allele were significantly more frequent in the observation group than in the control group (P<0.001). TT/CT genotypes and T allele were independent risk factors for bronchial asthma (OR=6.615 and 7.055 respectively; P<0.001). After GC treatment, the children with CC, CT or TT genotypes experienced significantly decreased levels of IgE, IL-8, and LTB4 and significantly increased forced expiratory volume in 1 second (FEV1), forced vital capacity (FVC), and FEV1/FVC ratio (P<0.001). The children with TT genotype showed significantly lower levels of IL-8 and LTB4 than those with CC genotype, a significantly lower level of LTB4 than those with CT genotype, significantly higher FVC than those with CT genotype, and a significantly higher FEV1/FVC ratio than those with CC genotype (P<0.05). The children with TT genotype had better GC efficacy compared with those with CC genotype (P<0.05). TT genotype was an independent factor for good GC efficacy (OR=2.111, P=0.018).
Conclusions:
MTHFR gene polymorphism is associated with asthma susceptibility and GC efficacy in children. Children carrying TT/CT genotypes have a higher risk of developing asthma, and those with TT genotype are more sensitive to GC treatment.
More Related Videos
Related Concept Videos
01:20Asthma: Pathogenesis and Management
Asthma is classified as allergic and non-allergic. Allergens such as dust mites, pollen, and pet dander trigger allergic asthma, while factors like cold air, intense emotions, or exercise can induce non-allergic asthma.
01:19Antiasthma Drugs: Leukotriene Modifiers
Leukotriene modifiers work through two distinct mechanisms:
01:25Antiasthma Drugs: Inhaled Corticosteroids and Glucocorticoids
ICS work through a multifaceted mechanism of action. They suppress the inflammatory response caused by the proliferation of TH cells. They also reduce the transcription of the IL-2 gene, which is involved in the...
01:24Antiasthma Drugs: Methylxanthines
Theophylline is thought to inhibit phosphodiesterase enzymes, increasing intracellular levels of cyclic adenosine monophosphate (cAMP) and cyclic guanosine monophosphate (cGMP). This rise in cAMP and cGMP concentrations stimulates cardiac function,...
01:26Asthma-II: Pathophysiology and Classification
Additionally, environmental and genetic factors play crucial roles in determining an individual's susceptibility to asthma and the severity of their condition.
Critical processes in asthma pathophysiology include:
01:29Asthma-I: Introduction