Candidate gene polymorphisms associated with silicosis and coal workers’ pneumoconiosis: a systematic review and meta-analysis

Silicosis and coal worker’s pneumoconiosis primarily result from exposure to silica and coal dust. Despite similar exposure levels, individuals exhibit varying responses. This study aimed to address these gaps to explore the genetic factors influencing the development, severity, and associated complications.

A systematic literature search was performed across four databases—PubMed, Embase, Web of Science, and Cochrane Library—until July, 2023. Qualitative and quantitative analyses were applied to identify candidate genes.

This study involved 83 articles and encompassed 545 individual studies, reviewing a total of 378 gene loci. After rigorous evaluation, we selected 8 candidate genes (TNFα-308, TNFα-238, GSTT1, IL-1α + 4845, IL-1β-511, IL-1β + 3953, IL-1RA + 2018, and IL-6–174) for meta-analysis. The analysis revealed that allele A of TNFα-308, allele A of TNFα-238, and allele C of IL-1RA + 2018 were identified as risk factors for the development of diseases.

This study established associations between specific genetic polymorphisms (TNFα-308, TNFα-238, and IL-1RA + 2018) and susceptibility to silicosis and coal worker’s pneumoconiosis.