瞬时受体电位香草酸亚型5（TRPV5）钙通道基因单核苷酸多态性（rs4252424）与中国工人铅中毒的关联
Association between single nucleotide polymorphism (rs4252424) in TRPV5 calcium channel gene and lead poisoning in Chinese workers.
作者信息
Liu Jiting, Zhang Li, Feng Lixia, Xu Ming, Gao Yue, Zhou Peng, Yu Zhengmin, Zhu Baoli, An Yan, Zhang Hengdong
机构信息
Department of Toxicology, School of Public Health, Jiangsu Key Laboratory of Preventive and Translational Medicine for Geriatric Diseases, Medical College of Soochow University, Suzhou, China.
Department of Occupational Disease Prevention, Jiangsu Provincial Center for Disease Control and Prevention, Nanjing, China.
出版信息
Mol Genet Genomic Med. 2019 Mar;7(3):e562. doi: 10.1002/mgg3.562. Epub 2019 Jan 21.
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, p = 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.
背景
铅（Pb）广泛应用于各种行业，会对人体组织、器官和系统造成不可逆转的损害。研究表明，铅通过干扰钙通道发挥毒性作用。
方法
在本研究中，我们调查了钙通道相关基因TRPV5中的单核苷酸多态性（SNP）是否与铅暴露易感性相关。通过使用TaqMan SNP基因分型技术，我们对1130名铅暴露水平相似的中国工人的8个TRPV5标签SNP进行了基因分型。
结果
单核苷酸多态性rs4252424与以血铅水平（BLL）衡量的铅易感性显著相关（β = -0.069，p = 0.029）。然而，其他七个SNP与BLL之间均无显著关联。进一步的表达数量性状位点分析显示，rs4252424的CC基因型与高于CT基因型的BLL显著相关（p < 0.0001）。
结论
我们得出结论，SNP rs4252424有潜力用于评估中国职业人群的铅易感性，并进一步加强铅暴露的预防和干预。
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