Related Experiment Video
Updated: Aug 30, 2026

Experimental Protocol for Using Drosophila As an Invertebrate Model System for Toxicity Testing in the Laboratory
Published on: July 10, 2018
Vitamin D receptor Fok1 polymorphism and blood lead concentration in children
Erin N Haynes1, Heidi J Kalkwarf, Richard Hornung
1Cincinnati Children's Environmental Health Center and General and Community Pediatrics, Cincinnati Children's Hospital Medical Center, and Department of Environmental Health, University of Cincinnati, Cincinnati, Ohio, USA. erin.haynes@cchmc.org
Insights
Genetic variations in the vitamin D receptor (VDR) gene influence how children’s blood lead levels respond to environmental lead exposure, particularly from floor dust. Specific VDR genotypes modify this relationship, impacting public health strategies for lead poisoning prevention.
Area of Science:
- Environmental Health
- Genetics
- Toxicology
Background:
- Blood lead concentration is influenced by multiple factors, including genetics.
- The vitamin D receptor (VDR) gene is a potential candidate for modifying lead exposure effects.
Purpose of the Study:
- To investigate the association between blood lead concentration and a VDR gene polymorphism (Fok1).
- To determine if VDR genotype modifies the relationship between environmental lead exposure and blood lead levels in children.
Main Methods:
- Analysis of environmental samples and blood lead levels in 245 children.
- Assessment of nutritional and behavioral factors.
- Determination of VDR Fok1 genotype.
Main Results:
- A significant interaction was observed between floor dust lead levels and VDR genotype on blood lead concentration.
- Children with the VDR -ff genotype showed a higher percentage increase in blood lead with increasing floor dust lead compared to FF and Ff genotypes.
- At low floor dust lead levels (< 10 microg/ft(2)), children with the VDR -ff genotype had the lowest blood lead concentrations.
Conclusions:
- The VDR Fok1 gene polymorphism acts as an effect modifier in the relationship between floor dust lead exposure and blood lead concentration.
- These findings highlight the importance of considering genetic factors in understanding individual susceptibility to lead toxicity and in developing targeted interventions.
Abstract:
Variation in blood lead concentration is caused by a complex interaction of environmental, social, nutritional, and genetic factors. We evaluated the association between blood lead concentration and a vitamin D receptor (VDR) gene polymorphism. Environmental samples and blood were analyzed for lead, nutritional and behavioral factors were assessed, and VDR -Fok1 genotype was determined in 245 children. We found a significant interaction between floor dust lead and genotype on blood lead concentration. For every 1 microg/ft(2) increase in floor dust, children with VDR -FF genotype had a 1.1% increase in blood lead [95% confidence interval (CI), 0.69-1.5], VDR -Ff, 0.53% increase (95% CI, 0.1-0.92), and VDR -ff, 3.8% increase (95% CI, 1.2-6.3); however, at floor dust levels < 10 microg/ft(2), children with VDR -ff had the lowest blood lead concentrations. These data suggest that VDR -Fok1 is an effect modifier of the relationship of floor dust lead exposure and blood lead concentration.
Related Concept Videos
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
Pharmacokinetics in Pediatric Patients: Drug Distribution
Pharmacokinetics in Pediatric Patients: Overview and Drug Absorption
Genetic Lingo
