Advances in research on genetic susceptibility to silicosis
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.
NETL
NSTL
万方数据
