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目的研究DNA修复基因XRCC1单核苷酸多态性与铅毒性易感性的关系。方法采集326名某蓄电池企业铅作业工人外周静脉血样品,检测血铅和血锌原卟啉(ZPP),采用聚合酶链式反应-限制性片段长度多态(PCR-RFLP)检测XRCC1基因型,分析不同基因型铅作业工人与铅毒性易感性的关系。结果 326名铅作业工人XRCC1基因分布呈现多态现象,各基因型的分布频率符合遗传学的Hardy-Weinberg平衡(P>0.05);不同基因型组(XRCC1-194CC/CT+TT、XRCC1-280 GG/GA+AA、XRCC1-399GG/GA+AA)工人ZPP差异无统计学意义(P>0.05);XRCC1-194CT+TT基因型组工人平均血铅值高于XRCC1-241CC基因型组(P<0.05),而XRCC1-280GG/GA+AA、XRCC1-399GG/GA+AA基因型组工人平均血铅值差异无统计学意义(P>0.05);以血铅水平1.90μmol/L为界,经χ2检验、logistic回归分析显示,高铅组XRCC1-194CT+TT基因型的比例大于低铅组(P<0.05),XRCC1-194CT+TT基因型组工人较XRCC1-194CC基因型组工人高血铅发生率的风险明显增高(OR=2.78,95%CI=1.49～5.28)。结论XRCC1 Arg194Trp基因单核苷酸多态性与血铅升高有一定关联性,C→T多态性提高了接铅工人对铅毒性易感的风险性,XRCC1-194CT/TT基因型可能是铅毒性易感基因型;XRCC1 Arg280His和XRCC1 Arg399Gln多态性可能与铅毒性易感性无关。
Objective To study the relationship between DNA repair gene XRCC1 single nucleotide polymorphism and susceptibility to lead toxicity. Methods Peripheral venous blood samples of 326 lead workers were collected to detect the levels of blood lead and zinc protoporphyrin (ZPP). The genotypes of XRCC1 were detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) , Analysis of different genotypes of lead workers and lead toxicity relationship. Results The distribution of XRCC1 gene was polymorphic in 326 lead workers. The distribution frequency of each genotype was in accordance with the Hardy-Weinberg equilibrium of genetics (P> 0.05). The genotype distribution of XRCC1 gene in different genotypes (XRCC1-194CC / CT + TT, XRCC1-280 (P> 0.05). The average blood lead level of workers in XRCC1-194CT + TT genotype group was higher than that in XRCC1-241CC genotype group (P <0.05) <0.05). However, there was no significant difference in average blood lead between XRCC1-280GG / GA + AA and XRCC1-399GG / GA + AA genotypes (P> 0.05). With the blood lead level of 1.90μmol / Logistic regression analysis showed that the proportion of XRCC1-194CT + TT genotype in high lead group was higher than that in low lead group (P <0.05), and workers in XRCC1-194CT + TT genotype group were higher than those in XRCC1-194CC genotype group The risk of lead was significantly higher (OR = 2.78, 95% CI = 1.49-5.28). Conclusion The single nucleotide polymorphism of XRCC1 Arg194Trp gene is associated with the increase of blood lead. The C → T polymorphism increases the risk of lead exposure to lead toxicity. The genotype XRCC1-194CT / TT may be Lead toxicity susceptibility genotypes; XRCC1 Arg280His and XRCC1 Arg399Gln polymorphisms may not be susceptible to lead toxicity.