Ankara University Institute of Forensic Sciences Dikimevi, 06590 Ankara, Turkey.
Toxicol Appl Pharmacol. 2011 Oct 1;256(1):1-7. doi: 10.1016/j.taap.2011.06.023. Epub 2011 Jul 13.
Metallothioneins (MTs) are low molecular weight, cysteine-rich, metal-binding proteins. Because of their rich thiol groups, MTs bind to the biologically essential metals and perform these metals' homeostatic regulations; absorb the heavy metals and assist with their transportation and extraction. The aim of this study was to investigate the association between the metallothionein 2A (MT2A) core promoter region -5 A/G single nucleotide polymorphism (SNP) and Cd, Pb, Zn and Cu levels in the blood samples. MT2A polymorphism was determined by the standard polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique using the 616 blood samples and the genotype frequencies were found as 86.6% homozygote typical (AA), 12.8% heterozygote (AG) and 0.6% homozygote atypical (GG). Metal levels were analyzed by dual atomic absorption spectrophotometer system and the average levels of Cd, Pb, Zn and Cu in the blood samples were 1.69±1.57 ppb, 30.62±14.13 ppb, 0.98±0.49 ppm and 1.04±0.45 ppm, respectively. As a result; highly statistically significant associations were detected between the -5 A/G core promoter region SNP in the MT2A gene and Cd, Pb and Zn levels (p=0.004, p=0.012 and p=0.002, respectively), but no association was found with Cu level (p=0.595). Individuals with the GG genotype had statistically lower Zn level and higher Cd and Pb levels in the blood samples than individuals with AA and AG genotypes. This study suggests that having the GG genotype individuals may be more sensitive for the metal toxicity and they should be more careful about protecting their health against the toxic effects of the heavy metals.
金属硫蛋白(MTs)是一种低分子量、富含半胱氨酸的金属结合蛋白。由于其富含巯基,MTs 与生物必需的金属结合,并对这些金属进行动态调节;吸收重金属并协助其运输和提取。本研究旨在探讨金属硫蛋白 2A(MT2A)核心启动子区-5A/G 单核苷酸多态性(SNP)与血液中 Cd、Pb、Zn 和 Cu 水平之间的关系。采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术,用 616 份血样检测 MT2A 多态性,基因型频率分别为 86.6%纯合典型(AA)、12.8%杂合(AG)和 0.6%纯合非典型(GG)。金属水平采用双原子吸收分光光度计系统分析,血液中 Cd、Pb、Zn 和 Cu 的平均水平分别为 1.69±1.57 ppb、30.62±14.13 ppb、0.98±0.49 ppm 和 1.04±0.45 ppm。结果显示,MT2A 基因-5A/G 核心启动子区 SNP 与 Cd、Pb 和 Zn 水平之间存在高度显著的相关性(p=0.004、p=0.012 和 p=0.002),但与 Cu 水平无相关性(p=0.595)。与 AA 和 AG 基因型个体相比,GG 基因型个体血液中 Zn 水平较低,Cd 和 Pb 水平较高。本研究表明,GG 基因型个体可能对金属毒性更为敏感,应更加注意保护自己的健康,免受重金属的毒性影响。