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Updated: Jan 30, 2026

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
Published on: February 10, 2023
Association between single nucleotide polymorphism (rs4252424) in TRPV5 calcium channel gene and lead poisoning in
Jiting Liu1, Li Zhang2,3, Lixia Feng4
1Department of Toxicology, School of Public Health, Jiangsu Key Laboratory of Preventive and Translational Medicine for Geriatric Diseases, Medical College of Soochow University, Suzhou, China.
Background:
Lead (Pb) is broadly used in various industries and causes irreversible damage to human tissues, organs, and systems. Studies have revealed that lead exerts toxic effects via interfering with calcium channel.
Methods:
In the present study, we investigated whether single nucleotide polymorphisms (SNPs) in TRPV5, a calcium channel-related gene, were associated with lead exposure susceptibility. By using TaqMan SNP genotyping, we performed genotyping of eight TRPV5 tag-SNPs in 1,130 lead-exposed Chinese workers with similar lead exposure level.
Results:
Single nucleotide polymorphism rs4252424 was significantly associated with lead susceptibility, measured by blood lead level (BLL) (β = -0.069, plinear = 0.029). However, there was no significant association between any other seven SNPs and BLL. The further expression Quantitative Trait Loci displayed that CC genotype of rs4252424 is significant associated with higher BLL than CT (p < 0.0001).
Conclusion:
We conclude that SNP rs4252424 has the potential to evaluate lead susceptibility in the Chinese occupational population, and further enhance lead exposure prevention and intervention.
Insights
Single nucleotide polymorphism rs4252424 in the TRPV5 gene is linked to lead exposure susceptibility in Chinese workers. This finding may improve lead exposure prevention and intervention strategies.
Area of Science:
- Environmental Health
- Genetics
- Toxicology
Background:
- Lead (Pb) exposure causes irreversible damage by interfering with calcium channels.
- Understanding genetic susceptibility to lead toxicity is crucial for public health.
Purpose of the Study:
- To investigate the association between single nucleotide polymorphisms (SNPs) in the TRPV5 gene and lead exposure susceptibility.
- To identify genetic markers for evaluating lead susceptibility in occupational populations.
Main Methods:
- Genotyping of eight TRPV5 tag-SNPs in 1,130 lead-exposed Chinese workers using TaqMan SNP genotyping.
- Analysis of the association between SNPs and blood lead levels (BLL).
Main Results:
- SNP rs4252424 was significantly associated with lead susceptibility (β = -0.069, p=0.029).
- The CC genotype of rs4252424 was linked to higher BLL compared to the CT genotype (p < 0.0001).
- No significant association was found for the other seven SNPs.
Conclusions:
- SNP rs4252424 has potential as a biomarker for evaluating lead susceptibility in the Chinese occupational population.
- This genetic marker can aid in enhancing lead exposure prevention and intervention efforts.
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