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目的探讨维生素D受体(VDR)组合基因型与职业性铅作业者血铅浓度易感性的关系。方法选取广州市职业病防治院铅作业工人专项体检中377名高暴露铅作业工人为研究对象,根据《中华人民共和国国家职业卫生标准》中《职业性慢性铅中毒诊断标准》(GBZ 37-2002),以血铅<1.9μmol/L者,为血铅正常组,血铅≥1.9μmol/L者为血铅异常组。采用统一调查表问卷调查工人的基本情况:年龄、工龄、经济收入、吸烟、饮酒等。采用TaqMan探针技术对VDR基因Bs-mI、Tru9I和ApaI单核苷酸多态性(SNPs)进行检测,利用ABI7500 SDS Software V1.4软件,进行组合基因型的计算和构建。结果高铅暴露人群中,VDR基因BsmI-Tru9I-ApaI的组合基因型中,与分布频率最高CC+CC+CC比较,CC+CC+AC是血铅浓度异常的危险因素,OR值为5.214(95%CI 2.569～10.582),P<0.01。结论 VDR基因BsmI-Tru9I-ApaI的组合基因型CC+CC+AC可能是铅中毒的易感基因型。
Objective To investigate the relationship between vitamin D receptor (VDR) genotypes and susceptibility to lead levels in occupational lead workers. Methods A total of 377 workers with high exposure to lead exposure were selected from Guangzhou Occupational Disease Prevention and Control Institute. According to “Diagnostic Criteria for Occupational Chronic Lead Poisoning” (GBZ 37-2002) in “National Occupational Health Standard of People’s Republic of China” , Blood lead <1.9μmol / L for the normal blood lead group, blood lead ≥ 1.9μmol / L for the blood lead group. The questionnaire survey using a unified questionnaire survey of workers: age, seniority, economic income, smoking, drinking and so on. The Bs-mI, Tru9I and ApaI single nucleotide polymorphisms (SNPs) of VDR gene were detected by TaqMan probe technology. The ABI 7500 SDS Software V1.4 software was used to calculate and construct the combined genotypes. Results CC + CC + AC was a risk factor for blood lead level abnormality in combination genotypes of VDR gene BsmI-Tru9I-ApaI with highest frequency of CC + CC + CC in high-lead exposure group. The OR value was 5.214 ( 95% CI 2.569 ~ 10.582), P <0.01. Conclusions The combined genotype CC + CC + AC of VDR gene BsmI-Tru9I-ApaI may be a susceptible genotype of lead poisoning.