职业性慢性锰中毒患者谷胱甘肽S-转移酶π基因多态性研究

The association between glutathione S-transferase gene polymorphism and occupational chronic manganism

目的探讨谷胱甘肽S-转移酶π（GSTπ）313位点（GSTπ313）基因多态性与职业性慢性锰中毒易感性的关系。方法选择78例职业性慢性锰中毒患者作为观察组,另选基线资料匹配的有锰接触史的健康人81例作为对照组。GSTπ313基因型采用聚合酶链式反应-限制性片段长度多态性方法识别。对2组外周血GSTπ313基因型分布及等位基因频率进行比较。结果 2组基因型的检出值与理论值均符合Hardy-Weinberg平衡法则,吻合度良好。观察组GSTπ313A/A基因型出现频率为91.03%（71/78）,A/G基因型出现频率为8.97%（7/78）;对照组A/A基因型出现频率为64.20%（52/81）,A/G基因型出现频率为35.80%（29/81）;2组均未出现G/G基因型。2组的基因类型频率差异具有统计学意义（P〈0.01）。在观察组中,与GSTπ313A/G基因型相比,A/A基因型具有明显优势（OR=5.67,95%CI：2.42~13.27）。观察组A、G等位基因频率分别为95.51%和4.49%,而对照组分别为82.10%和17.90%,2组A、G等位基因频率的差异具有统计学意义（P〈0.01）。在观察组中,与等位基因G比较,等位基因A具有明显优势（OR=4.64,95%CI：2.09~10.31）。结论 GSTπ313A/A基因型可能是职业性慢性锰中毒的危险因素之一,GSTπ313基因多态性可能与职业性慢性锰中毒易感性有关。

Objective To ascertain whether the human glutathione S-transferase （GSTπ） at codon 313 （GSTπ313） gene polymorphism associated with occupational chronic manganism.Methods Seventy-eight patients with occupational chronic manganism were selected as observation group,and basic data-matched 81 healthy subjects with contact history of manganese were served as control group.The genotype of GSTπ313 was identified by polymerase chain reaction-restriction fragment length polymorphism（PCR-RELP）.The distribution of genotype and allelic frequencies between observation group and control group were compared.Results The detected and theoretical values of genotype in observation group and control group were all consistent with Hardy-Weinberg equilibrium, and the identical degree was good.The frequencies of genotype A/A and A/G of GSTπ313 were 91.03% （71/78）and 8.97%（7/78） respectively in the observation group, while the frequencies of genotype A/A and A/G of GSTπ313 were 64.20%（52/81） and 35.80%（29/81） respectively in the control group.The genotype G/G of GSTπ313 was not found in two groups.There was significant difference in the frequencies of genotype between two groups （P0.01）.Compared with genotype A/G of GSTπ313,the genotype A/A of GSTπ313 had obvious superiority in observation group（OR=5.67,95%CI：2.42-13.27）. The allelic frequencies of A,G were 95.51% and 4.49% respectively in observation group, while the allelic frequencies of A,G were 82.10% and 17.90% respectively in control group,and there was significant difference in allelic frequencies of A,G between two groups（P0.01）. Compared with allele G,the allele A had obvious superiority in observation group（OR=4.64,95%CI：2.09-10.31）.Conclusions genotype A/A of GSTπ313 might be one of the risk factors for occupational chronic manganism. The GSTπ313 gene polymorphism could be associated with the susceptibility of occupational chronic manganism.