Interleukin 1α and 1β gene variations are associated with tuberculosis in silica exposed subjects

• Published in: American journal of industrial medicine Vol. 63; no. 1; pp. 74 - 84
• Main Authors: Salum, Kaio Cezar Rodrigues, Castro, Marcos Cesar Santos, Moreira, Valéria Barbosa, Nani, Angela Santos Ferreira, Kohlrausch, Fabiana Barzotto
• Format: Journal Article
• Language: English
• Published: United States Wiley Subscription Services, Inc 01.01.2020
• Subjects: Alleles; association study; Brazil; Confidence intervals; Crystal structure; Crystallinity; Cytokines; Exposure; Female; Fibrosis; Gene polymorphism; Genetic Predisposition to Disease; Genetic Variation; genetics; Genotype; Humans; Inflammation; Inhalation; Interleukin 1; Interleukin-1alpha - genetics; Interleukin-1beta - genetics; Interleukins; Lung diseases; Male; Nucleotides; Occupational Exposure; Polymerase chain reaction; Polymorphism; Polymorphism, Single Nucleotide; Respiration; Restriction fragment length polymorphism; Risk Factors; Silica; Silicon dioxide; Silicon Dioxide - toxicity; Silicosis; Silicosis - genetics; Single-nucleotide polymorphism; Tuberculosis; Tuberculosis - genetics; Tumor Necrosis Factor-alpha - genetics; Brazil; silicosis; cytokines; polymorphism; genetics; association study; tuberculosis
• ISSN: 0271-3586; 1097-0274
• DOI: 10.1002/ajim.23066

Introduction Silicosis is a fibrotic lung disease resulting from the inhalation of crystalline silica and can be classified as simple or complicated according to the International Labour Organization criteria. Furthermore, individuals exposed to crystalline silica also have a higher risk for the development of tuberculosis (Tb). The contribution of inflammatory cytokines to the risk of silicosis and Tb in different populations has previously been reported. Since genetic background might be related to susceptibility to silicosis and Tb, the study of polymorphisms within IL‐1α, IL‐1β, and tumor necrosis factor protein‐coding genes may contribute to elucidating the genetic basis of these diseases. Methods Single nucleotide polymorphisms (SNPs) were genotyped by polymerase chain reaction using restriction fragment length polymorphism or by Taqman methodology, in a sample of 102 silica‐exposed patients from Brazil. Results No significant associations were observed between the SNPs studied and the severity of silicosis. However, significant associations were found between Tb and the C allele (odds ratio [OR] = 1.93, 95% confidence interval [CI], 1.01‐3.73) and the CC genotype (OR = 2.34, 95% CI, 1.04‐5.31) of IL1A −899C>T. The IL1B +3954C>T polymorphism also showed an association with Tb (T allele dominant model OR = 2.38, 95% CI, 1.04‐5.41). Conclusion These preliminary results demonstrate that the IL1A and IL1B gene variations may contribute to some extent to susceptibility to Tb, but not silicosis. However, additional studies are still needed to confirm these results.