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目的探讨DNA甲基化转移酶1(DNMT1)基因多态性与铅中毒易感性的关系。方法采用病例-对照研究方法,以78例职业性慢性铅中毒患者为铅中毒组,以同企业、同工种及年龄相近的78名未发生铅中毒的铅作业工人为对照组。采集2组人群清晨空腹肘静脉血,采用多重聚合酶链式反应-连接酶检测反应分型法检测DNMT1rs2228611及rs10854076位点单核苷酸多态性(SNP)。结果 2组人群DNMT1 rs2228611及rs10854076位点等位基因频率分布均符合遗传学Hardy-Weinberg平衡定律(P>0.05)。2组人群rs2228611位点3种基因型AA、AG、GG总体分布不同(P<0.05),等位基因A、G的基因频率分布不同(P<0.05),纯合子AA基因型携带者铅中毒易感性增高[比值比为7.88,95%可信区间为(1.56~39.84),P<0.05]。2组人群rs10854076位点3种基因型CC、CG、GG总体分布及等位基因C、G的基因频率分布分别比较,差异均无统计学意义(P>0.05);该位点不同基因型与铅中毒易感性无关(P>0.05)。结论 DNMT1 rs2228611位点SNP与铅中毒易感性相关,纯合子AA基因型为风险基因型,可增加铅中毒的易感性。
Objective To investigate the relationship between DNA methylation transferase 1 (DNMT1) gene polymorphism and susceptibility to lead poisoning. Methods A case-control study was conducted in 78 patients with occupational chronic lead poisoning who were lead poisoning and 78 lead workers who were not exposed to lead poisoning were employed as controls. The fasting elbow venous blood was collected from 2 groups of patients and the single nucleotide polymorphisms (SNPs) of DNMT1rs2228611 and rs10854076 were detected by multiplex polymerase chain reaction - ligase assay. Results The frequencies of alleles in DNMT1 rs2228611 and rs10854076 loci were in accordance with the Hardy-Weinberg equilibrium (P> 0.05). The genotype distributions of AA, AG and GG in rs2228611 were different in two groups (P <0.05), and alleles A and G (P <0.05). The frequency of homozygous AA genotypes lead poisoning Susceptibility increased [odds ratio 7.88, 95% confidence interval (1.56 ~ 39.84), P <0.05]. There was no significant difference in the overall distribution of CC, CG, GG genotypes and allele C, G genotype frequencies among the rs10854076 loci in the two groups (P> 0.05) Lead poisoning susceptibility has nothing to do (P> 0.05). Conclusion SNP at SNP22 rs2228611 is associated with susceptibility to lead poisoning. The homozygous AA genotype is risk genotype, which may increase susceptibility to lead poisoning.