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个体遗传易感性是否是矽尘暴露与矽肺发生或严重程度之间的联系?一项系统评价。

Is individual genetic susceptibility a link between silica exposure and development or severity of silicosis? A systematic review.

机构信息

Programa de Pós-Graduação em Ciências e Biotecnologia, Universidade Federal Fluminense (UFF), Niterói, Brazil.

Hospital Universitário Antônio Pedro, Universidade Federal Fluminense (UFF), Niterói, Brazil.

出版信息

Inhal Toxicol. 2020 Aug;32(9-10):375-387. doi: 10.1080/08958378.2020.1825569. Epub 2020 Oct 2.

DOI:10.1080/08958378.2020.1825569
PMID:33006295
Abstract

BACKGROUND

Silicosis is a lung disease of fibrotic nature resulting from the inhalation and deposition of dust containing crystalline silica. Subjects exposed to the same environmental factors may show distinct radiological manifestations, and since silicosis is known as a multifactorial disease, it is plausible that individual genetic susceptibility may play a role in the pathology. This review of the literature aims to provide an assessment of the present data on the genetic association studies in silicosis and describe the genes that potentially might influence silicosis susceptibility in silica-exposed individuals.

METHODS

We accessed the database of PubMed for articles published in English about interindividual genetic susceptibility to silicosis using terms related to the subject matter.

RESULTS

Following the evaluation process, 28 studies were included in this systematic review, including 23 original studies and 5 meta-analyses.

CONCLUSIONS

Regardless of the advances in the knowledge of the importance of gene variations in silicosis, more studies need to be performed, in particular, special polygenic and genome-wide investigations.

摘要

背景

矽肺是一种纤维化性质的肺部疾病,由吸入和沉积含结晶二氧化硅的粉尘引起。暴露于相同环境因素的个体可能表现出不同的放射学表现,由于矽肺被认为是一种多因素疾病,因此个体遗传易感性可能在发病机制中起作用。本文对文献进行综述,旨在评估矽肺遗传相关性研究的现有数据,并描述可能影响暴露于二氧化硅的个体发生矽肺易感性的潜在基因。

方法

我们使用与主题相关的术语检索了 PubMed 数据库中发表的关于个体对矽肺遗传易感性的英文文章。

结果

经过评估过程,本系统综述纳入了 28 项研究,包括 23 项原始研究和 5 项荟萃分析。

结论

尽管人们越来越认识到基因变异在矽肺中的重要性,但仍需要开展更多的研究,特别是特殊的多基因和全基因组研究。

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Med J Islam Repub Iran. 2024 Nov 23;38:135. doi: 10.47176/mjiri.38.135. eCollection 2024.
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From Engineered Stone Slab to Silicosis: A Synthesis of Exposure Science and Medical Evidence.从人造石板材到矽肺:暴露科学与医学证据的综合研究。
Int J Environ Res Public Health. 2024 May 27;21(6):683. doi: 10.3390/ijerph21060683.
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Multi-omics and multi-stages integration identified a novel variant associated with silicosis risk.
多组学和多阶段整合鉴定出一个与矽肺风险相关的新型变异。
Arch Toxicol. 2024 Sep;98(9):2907-2918. doi: 10.1007/s00204-024-03795-2. Epub 2024 May 29.
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Integration of apaQTL and eQTL analysis reveals novel SNPs associated with occupational pulmonary fibrosis risk.apaQTL 和 eQTL 分析的整合揭示了与职业性肺纤维化风险相关的新 SNPs。
Arch Toxicol. 2024 Jul;98(7):2117-2129. doi: 10.1007/s00204-024-03734-1. Epub 2024 Mar 27.
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Differential pulmonary toxicity and autoantibody formation in genetically distinct mouse strains following combined exposure to silica and diesel exhaust particles.在分别和共同暴露于二氧化硅和柴油机尾气颗粒后,不同遗传背景的小鼠肺部毒性和自身抗体形成的差异。
Part Fibre Toxicol. 2024 Feb 27;21(1):8. doi: 10.1186/s12989-024-00569-7.
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