Effects of the Interactions between Dust Exposure and Genetic Polymorphisms in Nalp3, Caspase-1, and IL-1β on the Risk of Silicosis: A Case-Control Study.
Interleukin-1 beta (IL-1β) plays an important role in silica-induced lung inflammation, but the mechanisms that underlie the influence of IL-1β on the progression of silicosis remain unclear.
To study whether functional single nucleotide polymorphisms (SNPs) located in the regulatory elements of genes coding for the IL-1alpha, IL-1beta, and IL-1 receptor antagonist (RA) cytokines are associated with silicosis, we examined 318 Caucasian cases confirmed histopathologically with pulmonary silicosis and 163 controls without any apparent inflammation or other pulmonary disease.
The rs12812500 variant of the <i>CPM</i> gene may increase silicosis susceptibility by affecting the expression of <i>CPM</i>, which may contribute to silicosis susceptibility with biological plausibility.
A significant association of AA+AG genotype of the TNF-308 A/G polymorphism with susceptibility to silicosis was also found (OR = 1.466, 95%CI = 1.226-1.753, <i>P</i><0.001).
This meta-analysis suggested that TNF-a gene -308 G/A polymorphism is associated with increased silicosis and coal workers pneumoconiosis risk in the Chinese population, and further studies in other ethnic groups are required for definite conclusions.
Abnormal DNA methylation on genome-scale was implicated in silicosis, and PTEN promoter hypermethylation might be associated with decrease of PTEN protein.
A meta-analysis was performed in order to drive a more precise estimation of the relationship between TNF-α-308 G/A gene polymorphism and susceptibility to silicosis.
It is suggested that cytokine polymorphisms of TNF-α (-238, -308) and IL-1RA (+2018) are associated with the risk of silicosis in the Chinese workers exposed to silica particles.
The aims of the current investigation were to determine whether functional polymorphisms in the tumor necrosis factor-alpha (TNF-alpha) gene at position -308; in the transforming growth factor-beta 1 (TGF-beta1) gene at positions -509, +869 (codon 10), and +915 (codon 25); in the interleukin-10 (IL-10) gene at position -1,082, -819 and -592; and in the intron 1 of the interferon-gamma (IFN-gamma) gene at position +874 are associated with silicosis and PTB.