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Title: [Expression and functional SNP loci screen of ATM from coal worker's pneumoconiosis].
Author: Deng H, Zhang T, Wu ML, Yang GG, Chen Y, Liang YD.
Journal: Zhonghua Lao Dong Wei Sheng Zhi Ye Bing Za Zhi; 2022 Feb 20; 40(2):103-108. PubMed ID: 35255575.
Abstract:
Objective: To detect of gene expression and genotype of the ataxia telangiectasia mutated (ATM) from coal workers' pneumoconiosis (CWP) , It is explored whether CWP is related to ATM gene. Methods: In October 2020, the relevant information of 264 subjects who received physical examination or medical treatment in the Department of occupational diseases of Guiyang public health treatment center from January 2019 to September 2020 was collected. Through the occupational health examination, 67 healthy people with no history of exposure to occupational hazards were selected as the healthy control group; The coal miners with more than 10 years of coal dust exposure history and small shadow in the lung but not up to the diagnostic criteria were the dust exposure control group, a total of 66 people; The patients with the same history of coal dust exposure and confirmed stage I were coal worker's pneumoconiosis stage I group, a total of 131 people. The expression of ATM was detected by QRT PCR. ATM rs189037 and rs1801516 were genotyped by massarray. Results: There was significant difference in the expression of ATM among the groups (P<0.05) ; Compared with the healthy control group, the expression of ATM in the dust exposed control group was significantly increased (P<0.05) . With the occurrence and development of CWP, the GG of rs189037 wild type decreased, the GA of mutant heterozygote and AA of homozygote increased, but the difference was not statistically significant (P>0.05) ; Rs1801516 wild type GG and mutant heterozygote GA had no significant changes (P>0.05) . There were significant differences in age, neutrophils and basophils among rs189037 groups (all P<0.05) . There were no significant differences in blood pressure, eosinophils, lymphocytes, monocytes, smoking and drinking history among rs189037 groups (all P>0.05) . Compared with wild-type GG, the or of mutant heterozygotes and homozygotes increased, but the differences were not statistically significant (P>0.05) . Conclusion: ATM gene may be one of the early activation genes of CWP and rs189037 may be the functional loci which affects gene expression. ATM gene is related to inflammatory response, Neutrophils and basophils have an impact on the development of CWP. 目的： 对煤工尘肺（CWP）的毛细血管扩张性共济失调症突变基因（ATM）的基因表达量及其功能性单核苷酸多态性（SNP）位点的基因型进行分析，探讨CWP发生发展与ATM的关联。 方法： 于2020年10月，收集贵阳市公共卫生救治中心职业病科2019年1月至2020年9月职业健康体检或就诊的264名研究对象的相关信息。选择无职业危害因素接触史者作为健康对照组，共67人；具有10年以上煤尘接触史且肺部有小阴影但达不到诊断标准的煤矿工人为接尘对照组，共66人；具有同样煤尘接触史且已确诊的壹期CWP患者为煤工尘肺壹期组，共131人。采用逆转录-聚合酶链反应对各组ATM表达量进行检测。通过质谱仪对ATM rs189037、rs1801516进行基因分型。 结果： 各组间ATM表达量差异有统计学意义（P<0.05）；与健康对照组比较，接尘对照组患者的ATM表达明显升高（P<0.05）。随着CWP的发生发展，rs189037野生型GG减少，突变杂合子GA和纯合子AA增加，但差异无统计学意义（P>0.05）；rs1801516野生型GG和突变杂合子GA无明显变化（P>0.05）。rs189037型各组间年龄、中性粒细胞以及嗜碱性粒细胞差异均有统计学意义（均P<0.05），各组间血压、嗜酸性粒细胞、淋巴细胞、单核细胞以及烟酒史差异无统计学意义（均P>0.05）。与野生型GG型比较，突变杂合子和纯合子OR上升，但各组差异均无统计学意义（P>0.05）。 结论： ATM可能是煤工尘肺发生发展的早期活化基因之一，rs189037可能是影响其基因表达的功能性位点；ATM与炎症反应可能有关，中性粒细胞和嗜碱性粒细胞对CWP的发生发展有影响。.

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