Ubiquitin-proteasome system (UPS) gene, PSMD1, is an important gene for neutralization of damaged and misfolded protein(s). The current study was designed to study the genetic and expression variations of PSMD1 gene as a consequence of arsenic exposure and its potential implications in arsenic induced diseases. In the present study, 250 blood samples of exposed industrial workers along with 250 controls were used. Initially, tetra amplification refractory mutation system-PCR was used to determine the role of PSMD1 gene polymorphisms (rs1549339, rs13402242) in industrial workers and controls. Frequency of homozygous mutant genotype of rs1549339 (OR: 2.23, 95% CI: 1.51-3.32, p = 0.0001) and rs13402242 (OR: 2.96, 95% CI: 1.52-5.75, p = 0.001) was observed significantly higher in exposed individuals vs controls. Secondly, qPCR was performed for expression analysis of PSMD1 gene. Significant down-regulated expression of PSMD1 gene (p < 0.0001) was observed vs controls, and this down-regulation was observed more pronounced in smokers (p < 0.0001) with maximum exposure duration (p < 0.0008). This down-regulated expression was observed significantly more pronounced in welding (p < 0.004) and brick kiln industries (p < 0.04) compared to other selected industries. The obtained results suggest that the exposure to arsenic may have an increased risk of developing disease(s) because of arsenic-induced PSMD1 variations.

中文翻译：

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砷暴露工人中PSMD1基因内含子多态性（rs1549339，rs13402242）与mRNA表达变化的关联。

泛素-蛋白酶体系统（UPS）基因PSMD1是中和受损和错误折叠的蛋白质的重要​​基因。本研究旨在研究由于砷暴露而导致PSMD1基因的遗传和表达变异及其在砷诱发疾病中的潜在影响。在本研究中，使用了250名裸露的工业工人的血液样本以及250名对照。最初，使用四扩增难治性突变系统-PCR确定PSMD1基因多态性（rs1549339，rs13402242）在工业工人和对照中的作用。在暴露的个体中观察到纯合突变基因型rs1549339（OR：2.23，95％CI：1.51-3.32，p = 0.0001）和rs13402242（OR：2.96，95％CI：1.52-5.75，p = 0.001）的频率显着更高与控件。其次，进行qPCR用于PSMD1基因的表达分析。与对照组相比，观察到PSMD1基因的表达明显下调（p <0.0001），并且在吸烟者的最大暴露持续时间（p <0.0008）下观察到这种下调更为明显（p <0.0001）。与其他选定行业相比，在焊接（p <0.004）和砖窑行业（p <0.04）中观察到这种下调的表达更为明显。获得的结果表明，由于砷引起的PSMD1变异，接触砷可能增加患病的风险。0008）。与其他选定行业相比，在焊接（p <0.004）和砖窑行业（p <0.04）中观察到这种下调的表达更为明显。获得的结果表明，由于砷引起的PSMD1变异，接触砷可能增加患病的风险。0008）。与其他选定行业相比，在焊接（p <0.004）和砖窑行业（p <0.04）中观察到这种下调的表达更为明显。获得的结果表明，由于砷引起的PSMD1变异，接触砷可能增加患病的风险。