Advances in research on genetic susceptibility to silicosis
10.20001/j.issn.2095-2619.20240820
- VernacularTitle:矽肺遗传易感性研究进展
- Author:
Lijing JIANG
1
;
Wei WANG
;
Jiandong JIAO
Author Information
1. School of Public Health, Nanjing Medical University, Nanjing, Jiangsu 211166, China
- Publication Type:Review
- Keywords:
Silicosis;
Genetic susceptibility;
Single nucleotide polymorphisms;
Cytokines;
Interleukins;
Non-coding RNA;
Biomarkers;
Research advances
- From:
China Occupational Medicine
2024;51(4):460-465
- CountryChina
- Language:Chinese
-
Abstract:
Occupational silicosis (hereinafter referred to as "silicosis") exhibited individual differences in disease susceptibility, with genetic factors playing a crucial role in its onset and progression. Cytokines, such as interleukin (IL)-1RA +2018T>C locus, tumor necrosis factor-α -308G>A and -238G>A locus, transforming growth factor (TGF)-β1 +915G>C locus, were related to the development of silicosis. However, relationship between IL-17F +7488A>G and TGF-β1 -509T>C locus with silicosis had shown inconsistent results across different studies. Regulatory proteins such as matrix metalloproteinase (MMP)-2 -735C>T locus, MMP-9 rs3918242 locus, heat shock protein (HSP) 70-1+190G>C locus, carboxypeptidase M rs12812500 locus, family sequence similarity gene 13A (FAM13A) rs2609255 locus, and desmoplakin rs2076304 locus were also related to the development of silicosis. The A allele of the non-coding RNA miRNA-4508 rs6576457 increased the risk of developing silicosis-related pulmonary fibrosis in dust-exposed workers. The polymorphism in the long non-coding RNA ADGRG3 rs1814521 was related to silicosis susceptibility. Additionally, six circular RNAs of small nucleolar RNA host gene 14 rs17115143 sequence might be potential biomarkers of silicosis. Human leukocyte antigen-DR (HLA-DR) genes demonstrated a dual role in both risk and protection against silicosis, while angiotensin I-converting enzyme (ACE) gene polymorphisms likely affected silicosis development by modulating serum ACE activity. However, the mechanisms by which certain genetic variations affected susceptibility to silicosis remain unclear. Prospective studies with large-scale samples combining genetics, epidemiology, bioinformatics, and biofunctional studies are needed to promote the development of biomarkers for silicosis susceptibility and disease course, and clinical therapies.
