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

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.

Keywords:

• Silicosis
• genetics
• gene variation
• polymorphism
• association study
• susceptibility

Acknowledgements

We thank to Professor Norman Ratcliffe for critical reading of the manuscript and the funding agencies (Conselho Nacional de Desenvolvimento Científico e Tecnológico–CNPq, Brazil; Fundação de Amparo à Pesquisa do Estado do Rio de Janeiro–FAPERJ, Brazil; Coordenação de Aperfeiçoamento de Pessoal de Nível Superior–CAPES, and Universidade Federal Fluminense–UFF). The funding source(s) had no involvement in study design; in the collection, analysis and interpretation of data; in the writing of the report; and in the decision to submit the article for publication.

Author contributions

Conception and design of the work: KCRS and FBK; literature search and data analysis: KCRS and FBK; Drafting the work: KCRS; Revising the work critically for important intellectual content: MCSC, ASFN and FBK; Final approval of the version to be published: KCRS, MCSC, ASFN and FBK; All authors had full access to all the data in the paper and take responsibility for the integrity of its content.

Disclosure statement

No potential conflict of interest was reported by the author(s).