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

Salum, Kaio Cezar Rodrigues; Castro, Marcos César Santos de; Nani, Ângela Santos Ferreira; Kohlrausch, Fabiana B.

doi:10.1080/08958378.2020.1825569

Cited by 15 publications

(16 citation statements)

References 105 publications

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“…In addition, individual genetic susceptibility was also reported to play a significant role in the occurrence and development of silicosis. In particular, single nucleotide polymorphisms (SNPs) have been linked to the occurrence of silicosis [8]. Currently, genome-wide association study (GWAS) is widely used to test the association between SNPs and complex diseases or traits [9].…”

Section: Introductionmentioning

confidence: 99%

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The single nucleotide polymorphism rs1814521 in long non-coding RNA <i>ADGRG3</i> associates with the susceptibility to silicosis: a multi-stage study

Wang

Chen

et al. 2022

Environ. Health Prev. Med.

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Background: This study aimed to evaluate the correlation between long non-coding RNA (lncRNA)-related single nucleotide polymorphisms (SNPs) and susceptibility to silicosis. Methods: First, RNA-sequencing (RNA-seq) data were comprehensively analyzed in the peripheral blood lymphocytes of eight participants (four silicosis cases and four healthy controls) exposed to silica dust to identify differentially expressed lncRNAs (DE-lncRNAs). The functional SNPs in the identified DE-lncRNAs were then identified using several databases. Finally, the association between functional SNPs and susceptibility to silicosis was evaluated by a two-stage case-control study. The SNPs of 155 silicosis cases and 141 healthy silica-exposed controls were screened by genome-wide association study (GWAS), and the candidate SNPs of 194 silicosis cases and 235 healthy silica-exposed controls were validated by genotyping using the improved Mutiligase Detection Reaction (iMLDR) system. Results: A total of 76 DE-lncRNAs were identified by RNA-seq data analysis (cut-offs: fold change > 2 or fold change < 0.5, P < 0.05), while 127 functional SNPs among those 76 DE-lncRNAs were identified through multiple public databases. Furthermore, five SNPs were found to be significantly correlated with the risk of silicosis by GWAS screening (P < 0.05), while the results of GWAS and iMLDR validation indicated that the variant A allele of rs1814521 was associated with a reduced risk of silicosis (OR = 0.76, 95% CI = 0.62-0.94, P = 0.011). Conclusion:The presence of the SNP rs1814521 in the lncRNA ADGRG3 is associated with susceptibility to silicosis. Moreover, ADGRG3 was found to be lowly expressed in silicosis cases. The underlying biological mechanisms by which lncRNA ADGRG3 and rs1814521 regulate the development of silicosis need further study.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

The single nucleotide polymorphism rs1814521 in long non-coding RNA <i>ADGRG3</i> associates with the susceptibility to silicosis: a multi-stage study

Wang

Chen

et al. 2022

Environ. Health Prev. Med.

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“…Another cause for concern is that individuals exposed to the same working environment might present different health conditions: some people suffer from silicosis after working in an exposed environment for several years, whereas others remain healthy ( 10 ). This indicates the possibility of potentially non-modifiable risk factors related to silicosis, such as genetic variants (mainly single-nucleotide polymorphisms, SNPs) ( 11 ).…”

Section: Introductionmentioning

confidence: 99%

Integrating RNA-Seq With GWAS Reveals a Novel SNP in Immune-Related HLA-DQB1 Gene Associated With Occupational Pulmonary Fibrosis Risk: A Multi-Stage Study

et al. 2022

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ObjectiveTo evaluate the association between single-nucleotide polymorphisms (SNPs) in RNA-seq identified mRNAs and silicosis susceptibility.MethodsA comprehensive RNA-seq was performed to screen for differently expressed mRNAs in the peripheral blood lymphocytes of eight subjects exposed to silica dust (four silicosis cases and four healthy controls). Following this, the SNPs located on the shortlisted mRNAs, which may affect silicosis susceptibility, were screened through silicosis-related genome-wide association studies (GWAS) (155 silicosis cases and 141 healthy controls), whereas functional expression quantitative trait locus (eQTL)-SNPs were identified using the GTEx database. Finally, the association between functional eQTL-SNPs and silicosis susceptibility (194 silicosis cases and 235 healthy controls) was validated.ResultsA total of 70 differentially expressed mRNAs (fold change > 2 or fold change < 0.5, P < 0.05) was obtained using RNA-seq. Furthermore, 476 SNPs located on the shortlisted mRNAs, which may affect silicosis susceptibility (P < 0.05) were obtained using GWAS, whereas subsequent six functional eQTL-SNPs were identified. The mutant A allele of rs9273410 in HLA-DQB1 indicated a potential increase in silicosis susceptibility in the validation stage (additive model: odds ratio (OR)= 1.31, 95% confidence interval (CI) = 0.99–1.74, P = 0.061), whereas the combination of GWAS and the validation results indicated that the mutant A allele of rs9273410 was associated with increased silicosis susceptibility (additive model: OR = 1.35, 95% CI =1.09–1.68, P = 0.006).ConclusionThe mutant A allele of rs9273410 was associated with increased silicosis susceptibility by modulating the expression of HLA-DQB1.

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“…Some studies report that the polymorphisms in genes encoding proinflammatory cytokines or growth factors are associated with the occurrence of silicosis ( Salum et al., 2020a ; Wang et al., 2012 ). However, the functional relevance of the gene polymorphisms to the development of silicosis has not been validated ( Salum et al., 2020b ; Wu et al., 2008 ). Thus, the underlying mechanisms of mammalian susceptibility to silicosis remain largely unknown.…”

Section: Introductionmentioning

confidence: 99%

Impaired interferon-γ signaling promotes the development of silicosis

et al. 2022

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

Cited by 15 publications

References 105 publications

The single nucleotide polymorphism rs1814521 in long non-coding RNA <i>ADGRG3</i> associates with the susceptibility to silicosis: a multi-stage study

The single nucleotide polymorphism rs1814521 in long non-coding RNA <i>ADGRG3</i> associates with the susceptibility to silicosis: a multi-stage study

Integrating RNA-Seq With GWAS Reveals a Novel SNP in Immune-Related HLA-DQB1 Gene Associated With Occupational Pulmonary Fibrosis Risk: A Multi-Stage Study

Impaired interferon-γ signaling promotes the development of silicosis

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