Related Experiment Video
Updated: May 15, 2026
06:07
Cigarette Smoke Exposure in Mice using a Whole-Body Inhalation System
Published on: October 22, 2020
A possible genetic link between MTHFR genotype and smoking behavior.
Michael Linnebank1, Susanna Moskau, Alexander Semmler
1Department of Neurology, University Hospital Bonn, Bonn, Germany. michael.linnebank@usz.ch
Plos One
|January 4, 2013
Summary
Methylenetetrahydrofolate reductase (MTHFR) gene variants are linked to higher homocysteine levels and influence smoking behavior. This association may confound the relationship between MTHFR variants, homocysteine, and vascular disease risk.
Area of Science:
- Genetics and Cardiovascular Health
- Nutrigenomics and Disease Risk
- Epidemiology of Vascular Diseases
Background:
- Hyperhomocysteinemia is a known risk factor for stroke and vascular events.
- Methylenetetrahydrofolate reductase (MTHFR) C677T variant is associated with elevated homocysteine, cardiovascular disease, and stroke.
- MTHFR variants may also be linked to smoking behavior, potentially acting as a confounder.
Purpose of the Study:
- To investigate the association between MTHFR variants (C677T and A1298C) and smoking behavior.
- To examine the relationship between MTHFR variants, smoking status, and plasma homocysteine levels.
- To assess the potential confounding effect of MTHFR variants on the homocysteine-vascular disease link.
Main Methods:
- Analysis of MTHFR C677T and A1298C variants in two independent samples (525 and 535 individuals).
- Comparison of MTHFR variant carrier status between smokers and non-smokers using Chi-squared test and binary regression.
- Measurement and comparison of plasma homocysteine levels between smokers and non-smokers using ANOVA.
Main Results:
- Non-smokers were more likely to be homozygous carriers of wildtype MTHFR alleles (677CC and 1298AA) compared to smokers (21% vs 12%).
- Smokers exhibited higher plasma homocysteine levels (13.9 µmol/L) than non-smokers (12.6 µmol/L).
- Individuals with MTHFR 677TT genotype and who smoked had the highest homocysteine levels, while non-smoking 677CC individuals had the lowest.
Conclusions:
- MTHFR variants and smoking behavior are independently associated with plasma homocysteine levels.
- A significant association exists between MTHFR variants and smoking behavior in the study population.
- The interplay between MTHFR variants and smoking behavior represents a potential confounder in studies of homocysteine and vascular disease.
Related Concept Videos
01:29Pharmacogenetic 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...
01:11Pharmacogenetics 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...
01:28Human Genetics
Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
The complex relationship between genetics and psychology is observable through common biological components such...
02:59Cancer 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...
Some...
01:23Behavioral Genetics and Its Designs
Behavior genetics explores how genetic inheritance influences human behavior. It focuses on how genes, passed from parents to offspring, contribute to the development of behavioral traits and tendencies. This branch of genetics seeks to understand the complex interplay between inherited genetic factors and environmental influences in shaping our behaviors.
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...
01:29Pharmacogenomics: Identification of New Drug Targets
Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...