Molecular and Genetic Biomarkers in Idiopathic Pulmonary Fibrosis: Where Are We Now?
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Raghu, 2011, An Official ATS/ERS/JRS/ALAT Statement: Idiopathic Pulmonary Fibrosis: Evidence-based Guidelines for Diagnosis and Management, Am. J. Respir. Crit. Care Med., 183, 788, 10.1164/rccm.2009-040GL
Raghu, 2018, Diagnosis of Idiopathic Pulmonary Fibrosis. An Official ATS/ERS/JRS/ALAT Clinical Practice Guideline, Am. J. Respir. Crit. Care Med., 198, e44, 10.1164/rccm.201807-1255ST
Ley, 2011, Clinical course and prediction of survival in idiopathic pulmonary fibrosis, Am. J. Respir. Crit. Care Med., 183, 431, 10.1164/rccm.201006-0894CI
Ryerson, 2015, Acute exacerbation of idiopathic pulmonary fibrosis: Shifting the paradigm, Eur. Respir. J., 46, 512, 10.1183/13993003.00419-2015
Song, 2011, Acute exacerbation of idiopathic pulmonary fibrosis: Incidence, risk factors and outcome, Eur. Respir. J., 37, 356, 10.1183/09031936.00159709
Natsuizaka, 2014, Epidemiologic survey of Japanese patients with idiopathic pulmonary fibrosis and investigation of ethnic differences, Am. J. Respir. Crit. Care Med., 190, 773, 10.1164/rccm.201403-0566OC
Travis, 2013, An official American Thoracic Society/European Respiratory Society statement: Update of the international multidisciplinary classification of the idiopathic interstitial pneumonias, Am. J. Respir. Crit. Care Med., 188, 733, 10.1164/rccm.201308-1483ST
Martinez, 2017, Idiopathic pulmonary fibrosis, Nat. Rev. Dis. Primer, 3, 17074, 10.1038/nrdp.2017.74
Tomos, 2017, Extracellular matrix remodeling in idiopathic pulmonary fibrosis. It is the ‘bed’ that counts and not ‘the sleepers’, Expert Rev. Respir. Med., 11, 299, 10.1080/17476348.2017.1300533
Tomos, 2022, Telomere length across different UIP fibrotic-Interstitial Lung Diseases: A prospective Greek case-control study, Pulmonology, 28, 254, 10.1016/j.pulmoe.2020.11.005
Tomos, 2021, Long-term personal air pollution exposure and risk for acute exacerbation of idiopathic pulmonary fibrosis, Environ. Health, 20, 99, 10.1186/s12940-021-00786-z
Papiris, S.A., Kannengiesser, C., Borie, R., Kolilekas, L., Kallieri, M., Apollonatou, V., Ba, I., Nathan, N., Bush, A., and Griese, M. (2022). Genetics in Idiopathic Pulmonary Fibrosis: A Clinical Perspective. Diagnostics, 12.
Stainer, A., Faverio, P., Busnelli, S., Catalano, M., Della Zoppa, M., Marruchella, A., Pesci, A., and Luppi, F. (2021). Molecular Biomarkers in Idiopathic Pulmonary Fibrosis: State of the Art and Future Directions. Int. J. Mol. Sci., 22.
Wu, 2018, Current Status and Future Opportunities in Lung Precision Medicine Research with a Focus on Biomarkers. An American Thoracic Society/National Heart, Lung, and Blood Institute Research Statement, Am. J. Respir. Crit. Care Med., 198, e116, 10.1164/rccm.201810-1895ST
Xia, 2017, Calcium-binding protein S100A4 confers mesenchymal progenitor cell fibrogenicity in idiopathic pulmonary fibrosis, J. Clin. Investig., 127, 2586, 10.1172/JCI90832
Lawson, 2005, Characterization of fibroblast-specific protein 1 in pulmonary fibrosis, Am. J. Respir. Crit. Care Med., 171, 899, 10.1164/rccm.200311-1535OC
Akiyama, 2020, Clinical significance of serum S100 calcium-binding protein A4 in idiopathic pulmonary fibrosis, Respirology, 25, 743, 10.1111/resp.13707
Tanjore, 2009, Contribution of epithelial-derived fibroblasts to bleomycin-induced lung fibrosis, Am. J. Respir. Crit. Care Med., 180, 657, 10.1164/rccm.200903-0322OC
Lee, 2020, The S100 calcium-binding protein A4 level is elevated in the lungs of patients with idiopathic pulmonary fibrosis, Respir. Med., 171, 105945, 10.1016/j.rmed.2020.105945
Li, 2018, S100A4+ macrophages are necessary for pulmonary fibrosis by activating lung fibroblasts, Front. Immunol., 9, 1776, 10.3389/fimmu.2018.01776
Cha, 2012, Cleaved cytokeratin-18 is a mechanistically informative biomarker in idiopathic pulmonary fibrosis, Respir. Res., 13, 105, 10.1186/1465-9921-13-105
Ishikawa, 2012, Utility of KL-6/MUC1 in the clinical management of interstitial lung diseases, Respir. Investig., 50, 3, 10.1016/j.resinv.2012.02.001
Ohnishi, 2002, Comparative Study of KL-6, Surfactant Protein-A, Surfactant Protein-D, and Monocyte Chemoattractant Protein-1 as Serum Markers for Interstitial Lung Diseases, Am. J. Respir. Crit. Care Med., 165, 378, 10.1164/ajrccm.165.3.2107134
Ishizaka, 2004, Elevation of KL-6, a lung epithelial cell marker, in plasma and epithelial lining fluid in acute respiratory distress syndrome, Am. J. Physiol. Lung Cell. Mol. Physiol., 286, L1088, 10.1152/ajplung.00420.2002
Bennett, 2019, Calgranulin B and KL-6 in Bronchoalveolar Lavage of Patients with IPF and NSIP, Inflammation, 42, 463, 10.1007/s10753-018-00955-2
Ohshimo, 2014, Baseline KL-6 predicts increased risk for acute exacerbation of idiopathic pulmonary fibrosis, Respir. Med., 108, 1031, 10.1016/j.rmed.2014.04.009
Yokoyama, 2006, Prognostic value of circulating KL-6 in idiopathic pulmonary fibrosis, Respirology, 11, 164, 10.1111/j.1440-1843.2006.00834.x
Korthagen, 2011, Serum and BALF YKL-40 levels are predictors of survival in idiopathic pulmonary fibrosis, Respir. Med., 105, 106, 10.1016/j.rmed.2010.09.012
Furuhashi, 2010, Increased expression of YKL-40, a chitinase-like protein, in serum and lung of patients with idiopathic pulmonary fibrosis, Respir. Med., 104, 1204, 10.1016/j.rmed.2010.02.026
Craig, 2015, Matrix metalloproteinases as therapeutic targets for idiopathic pulmonary fibrosis, Am. J. Respir. Cell Mol. Biol., 53, 585, 10.1165/rcmb.2015-0020TR
Mei, 2021, Idiopathic Pulmonary Fibrosis: An Update on Pathogenesis, Front. Pharmacol., 12, 797292, 10.3389/fphar.2021.797292
Rosas, I.O., Richards, T.J., Konishi, K., Zhang, Y., Gibson, K., Lokshin, A.E., Lindell, K.O., Cisneros, J., Macdonald, S.D., and Pardo, A. (2008). MMP1 and MMP7 as potential peripheral blood biomarkers in idiopathic pulmonary fibrosis. PLoS Med., 5.
Takehara, 2001, Intercellular adhesion molecule-1 in patients with idiopathic interstitial pneumonia, Acta Med. Okayama, 55, 205
Shijubo, 1992, Circulating intercellular adhesion molecule-1 (ICAM-1) antigen in sera of patients with idiopathic pulmonary fibrosis, Clin. Exp. Immunol., 89, 58, 10.1111/j.1365-2249.1992.tb06877.x
Greene, 2002, Serum surfactant proteins-A and -D as biomarkers in idiopathic pulmonary fibrosis, Eur. Respir. J., 19, 439, 10.1183/09031936.02.00081102
Ishii, 2003, High serum concentrations of surfactant protein A in usual interstitial pneumonia compared with non-specific interstitial pneumonia, Thorax, 58, 52, 10.1136/thorax.58.1.52
Kinder, 2009, Serum surfactant protein-A is a strong predictor of early mortality in idiopathic pulmonary fibrosis, Chest, 135, 1557, 10.1378/chest.08-2209
Barlo, 2009, Surfactant protein-D predicts survival in patients with idiopathic pulmonary fibrosis, Sarcoidosis Vasc. Diffuse Lung Dis. Off. J. WASOG, 26, 155
Spangler, 2010, Allosteric inhibition of lysyl oxidase-like-2 impedes the development of a pathologic microenvironment, Nat. Med., 16, 1009, 10.1038/nm.2208
Chien, 2014, Serum lysyl oxidase-like 2 levels and idiopathic pulmonary fibrosis disease progression, Eur. Respir. J., 43, 1430, 10.1183/09031936.00141013
Naik, 2012, Periostin promotes fibrosis and predicts progression in patients with idiopathic pulmonary fibrosis, Am. J. Physiol. Lung Cell. Mol. Physiol., 303, L1046, 10.1152/ajplung.00139.2012
Okamoto, 2011, Periostin, a matrix protein, is a novel biomarker for idiopathic interstitial pneumonias, Eur. Respir. J., 37, 1119, 10.1183/09031936.00059810
Prasse, 2006, A vicious circle of alveolar macrophages and fibroblasts perpetuates pulmonary fibrosis via CCL18, Am. J. Respir. Crit. Care Med., 173, 781, 10.1164/rccm.200509-1518OC
Prasse, 2009, Serum CC-chemokine ligand 18 concentration predicts outcome in idiopathic pulmonary fibrosis, Am. J. Respir. Crit. Care Med., 179, 717, 10.1164/rccm.200808-1201OC
Wiertz, I.A., Moll, S.A., Seeliger, B., Barlo, N.P., van der Vis, J.J., Korthagen, N.M., Rijkers, G.T., Ruven, H.J.T., Grutters, J.C., and Prasse, A. (2020). Genetic Variation in CCL18 Gene Influences CCL18 Expression and Correlates with Survival in Idiopathic Pulmonary Fibrosis: Part A. J. Clin. Med., 9.
Ziegenhagen, 1998, Serum level of interleukin 8 is elevated in idiopathic pulmonary fibrosis and indicates disease activity, Am. J. Respir. Crit. Care Med., 157, 762, 10.1164/ajrccm.157.3.9705014
Papiris, 2018, High levels of IL-6 and IL-8 characterize early-on idiopathic pulmonary fibrosis acute exacerbations, Cytokine, 102, 168, 10.1016/j.cyto.2017.08.019
Nakamura, 1995, Priming of alveolar macrophages for interleukin-8 production in patients with idiopathic pulmonary fibrosis, Am. J. Respir. Crit. Care Med., 152, 1579, 10.1164/ajrccm.152.5.7582298
Clynick, 2022, Biomarker signatures for progressive idiopathic pulmonary fibrosis, Eur. Respir. J., 59, 2101181, 10.1183/13993003.01181-2021
Foster, 2015, Quantitative proteomics of bronchoalveolar lavage fluid in idiopathic pulmonary fibrosis, J. Proteome Res., 14, 1238, 10.1021/pr501149m
Sharma, P., Alizadeh, J., Juarez, M., Samali, A., Halayko, A.J., Kenyon, N.J., Ghavami, S., and Zeki, A.A. (2021). Autophagy, Apoptosis, the Unfolded Protein Response, and Lung Function in Idiopathic Pulmonary Fibrosis. Cells, 10.
Patel, A.S., Lin, L., Geyer, A., Haspel, J.A., An, C.H., Cao, J., Rosas, I.O., and Morse, D. (2012). Autophagy in idiopathic pulmonary fibrosis. PLoS ONE, 7.
Ghavami, 2018, Autophagy and the unfolded protein response promote profibrotic effects of TGF-β1 in human lung fibroblasts, Am. J. Physiol. Lung Cell. Mol. Physiol., 314, L493, 10.1152/ajplung.00372.2017
Fei, F., Qu, J., Li, C., Wang, X., Li, Y., and Zhang, S. (2017). Role of metastasis-induced protein S100A4 in human non-tumor pathophysiologies. Cell Biosci., 7.
Ford, 1995, Interaction of metastasis associated Mts1 protein with nonmuscle myosin, Oncogene, 10, 1597
Takenaga, 1994, Binding of pEL98 protein, an S100-related calcium-binding protein, to nonmuscle tropomyosin, J. Cell Biol., 124, 757, 10.1083/jcb.124.5.757
Zhang, 2012, Biomarkers in idiopathic pulmonary fibrosis, Curr. Opin. Pulm. Med., 18, 441, 10.1097/MCP.0b013e328356d03c
Guiot, 2017, Blood Biomarkers in Idiopathic Pulmonary Fibrosis, Lung, 195, 273, 10.1007/s00408-017-9993-5
Bonella, 2013, Serum KL-6 is a predictor of outcome in pulmonary alveolar proteinosis, Orphanet J. Rare Dis., 8, 53, 10.1186/1750-1172-8-53
Lee, 2019, Serum KL-6 levels reflect the severity of interstitial lung disease associated with connective tissue disease, Arthritis Res. Ther., 21, 58, 10.1186/s13075-019-1835-9
Munoz, 2022, YKL-40 and KL-6 Levels in Serum and Sputum of Patients Diagnosed With Hypersensitivity Pneumonitis, J. Allergy Clin. Immunol. Pract., 10, 2414, 10.1016/j.jaip.2022.06.031
Richards, 2012, Peripheral blood proteins predict mortality in idiopathic pulmonary fibrosis, Am. J. Respir. Crit. Care Med., 185, 67, 10.1164/rccm.201101-0058OC
Bauer, 2017, MMP-7 is a predictive biomarker of disease progression in patients with idiopathic pulmonary fibrosis, ERJ Open Res., 3, 00074, 10.1183/23120541.00074-2016
Kirillov, 2015, Sustained activation of toll-like receptor 9 induces an invasive phenotype in lung fibroblasts: Possible implications in idiopathic pulmonary fibrosis, Am. J. Pathol., 185, 943, 10.1016/j.ajpath.2014.12.011
Yamashita, 2011, Matrix metalloproteinase 3 is a mediator of pulmonary fibrosis, Am. J. Pathol., 179, 1733, 10.1016/j.ajpath.2011.06.041
Selman, M., Carrillo, G., Estrada, A., Mejia, M., Becerril, C., Cisneros, J., Gaxiola, M., Pérez-Padilla, R., Navarro, C., and Richards, T. (2007). Accelerated variant of idiopathic pulmonary fibrosis: Clinical behavior and gene expression pattern. PLoS ONE, 2.
Hall, 2003, The comparative role of activator protein 1 and Smad factors in the regulation of Timp-1 and MMP-1 gene expression by transforming growth factor-beta 1, J. Biol. Chem., 278, 10304, 10.1074/jbc.M212334200
Selman, 2000, TIMP-1, -2, -3, and -4 in idiopathic pulmonary fibrosis. A prevailing nondegradative lung microenvironment?, Am. J. Physiol. Lung Cell. Mol. Physiol., 279, L562, 10.1152/ajplung.2000.279.3.L562
Cavallaro, 2011, Adhesion molecule signalling: Not always a sticky business, Nat. Rev. Mol. Cell Biol., 12, 189, 10.1038/nrm3068
Bui, 2020, ICAM-1: A master regulator of cellular responses in inflammation, injury resolution, and tumorigenesis, J. Leukoc. Biol., 108, 787, 10.1002/JLB.2MR0220-549R
Adams, 2015, SFTPA2 Mutations in Familial and Sporadic Idiopathic Interstitial Pneumonia, Am. J. Respir. Crit. Care Med., 192, 1249, 10.1164/rccm.201504-0675LE
Wang, 2009, Genetic defects in surfactant protein A2 are associated with pulmonary fibrosis and lung cancer, Am. J. Hum. Genet., 84, 52, 10.1016/j.ajhg.2008.11.010
Papaioannou, A.I., Kostikas, K., Manali, E.D., Papadaki, G., Roussou, A., Spathis, A., Mazioti, A., Tomos, I., Papanikolaou, I., and Loukides, S. (2016). Serum Levels of Surfactant Proteins in Patients with Combined Pulmonary Fibrosis and Emphysema (CPFE). PLoS ONE, 11.
Chen, 2019, LOX/LOXL in pulmonary fibrosis: Potential therapeutic targets, J. Drug Target., 27, 790, 10.1080/1061186X.2018.1550649
Hinz, 2012, Mechanical aspects of lung fibrosis: A spotlight on the myofibroblast, Proc. Am. Thorac. Soc., 9, 137, 10.1513/pats.201202-017AW
Cai, 2013, CCL18 in serum, BAL fluid and alveolar macrophage culture supernatant in interstitial lung diseases, Respir. Med., 107, 1444, 10.1016/j.rmed.2013.06.004
Kunkel, 1991, Interleukin-8 (IL-8): The major neutrophil chemotactic factor in the lung, Exp. Lung Res., 17, 17, 10.3109/01902149109063278
Denhardt, 2001, Osteopontin as a means to cope with environmental insults: Regulation of inflammation, tissue remodeling, and cell survival, J. Clin. Investig., 107, 1055, 10.1172/JCI12980
Pardo, A., Gibson, K., Cisneros, J., Richards, T.J., Yang, Y., Becerril, C., Yousem, S., Herrera, I., Ruiz, V., and Selman, M. (2005). Up-regulation and profibrotic role of osteopontin in human idiopathic pulmonary fibrosis. PLOS Med., 2.
Ali, 2019, Osteopontin Expression in Small Airway Epithelium in Copd is Dependent on Differentiation and Confined to Subsets of Cells, Sci. Rep., 9, 15566, 10.1038/s41598-019-52208-3
Petta, 2018, Serum osteopontin in patients with lung cancer and chronic obstructive pulmonary disease: Does the co-existence make the difference?, J. Thorac. Dis., 10, 740, 10.21037/jtd.2018.01.45
Gui, X., Qiu, X., Xie, M., Tian, Y., Min, C., Huang, M., Hongyan, W., Chen, T., Zhang, X., and Chen, J. (2020). Prognostic Value of Serum Osteopontin in Acute Exacerbation of Idiopathic Pulmonary Fibrosis. BioMed Res. Int., 2020.
Lawson, 2011, Endoplasmic reticulum stress enhances fibrotic remodeling in the lungs, Proc. Natl. Acad. Sci. USA, 108, 10562, 10.1073/pnas.1107559108
Lawson, 2008, Endoplasmic reticulum stress in alveolar epithelial cells is prominent in IPF: Association with altered surfactant protein processing and herpesvirus infection, Am. J. Physiol. Lung Cell. Mol. Physiol., 294, L1119, 10.1152/ajplung.00382.2007
Burman, 2018, Endoplasmic reticulum stress in pulmonary fibrosis, Matrix Biol. J. Int. Soc. Matrix Biol., 68–69, 355, 10.1016/j.matbio.2018.03.015
Borie, 2022, European Respiratory Society Statement on Familial Pulmonary Fibrosis, Eur. Respir. J., 61, 2201383, 10.1183/13993003.01383-2022
Manali, 2022, Genotype-Phenotype Relationships in Inheritable Idiopathic Pulmonary Fibrosis: A Greek National Cohort Study, Respir. Int. Rev. Thorac. Dis., 101, 531
Armanios, 2012, Telomerase and idiopathic pulmonary fibrosis, Mutat. Res., 730, 52, 10.1016/j.mrfmmm.2011.10.013
Armanios, 2007, Telomerase mutations in families with idiopathic pulmonary fibrosis, N. Engl. J. Med., 356, 1317, 10.1056/NEJMoa066157
Aubert, 2012, Telomere length measurement-caveats and a critical assessment of the available technologies and tools, Mutat. Res., 730, 59, 10.1016/j.mrfmmm.2011.04.003
Newton, 2019, Telomere Length and Use of Immunosuppressive Medications in Idiopathic Pulmonary Fibrosis, Am. J. Respir. Crit. Care Med., 200, 336, 10.1164/rccm.201809-1646OC
Stuart, 2014, Effect of telomere length on survival in patients with idiopathic pulmonary fibrosis: An observational cohort study with independent validation, Lancet Respir. Med., 2, 557, 10.1016/S2213-2600(14)70124-9
Alder, 2018, Diagnostic utility of telomere length testing in a hospital-based setting, Proc. Natl. Acad. Sci. USA, 115, E2358, 10.1073/pnas.1720427115
Alder, 2008, Short telomeres are a risk factor for idiopathic pulmonary fibrosis, Proc. Natl. Acad. Sci. USA, 105, 13051, 10.1073/pnas.0804280105
Nathan, 2016, Surfactant protein A: A key player in lung homeostasis, Int. J. Biochem. Cell Biol., 81 Pt A, 151, 10.1016/j.biocel.2016.11.003
Nathan, 2016, Germline SFTPA1 mutation in familial idiopathic interstitial pneumonia and lung cancer, Hum. Mol. Genet., 25, 1457, 10.1093/hmg/ddw014
Whitsett, 2010, Alveolar surfactant homeostasis and the pathogenesis of pulmonary disease, Annu. Rev. Med., 61, 105, 10.1146/annurev.med.60.041807.123500
Flamein, 2012, Molecular and cellular characteristics of ABCA3 mutations associated with diffuse parenchymal lung diseases in children, Hum. Mol. Genet., 21, 765, 10.1093/hmg/ddr508
Li, 2023, ABCA3-related interstitial lung disease beyond infancy, Thorax, 78, 587, 10.1136/thorax-2022-219434
Manali, 2019, Bi-allelic missense ABCA3 mutations in a patient with childhood ILD who reached adulthood, ERJ Open Res., 5, 00066, 10.1183/23120541.00066-2019
Nattes, 2017, Heterogeneity of lung disease associated with NK2 homeobox 1 mutations, Respir. Med., 129, 16, 10.1016/j.rmed.2017.05.014
Helling, 2017, Regulation of MUC5B Expression in Idiopathic Pulmonary Fibrosis, Am. J. Respir. Cell Mol. Biol., 57, 91, 10.1165/rcmb.2017-0046OC
Dressen, 2018, Analysis of protein-altering variants in telomerase genes and their association with MUC5B common variant status in patients with idiopathic pulmonary fibrosis: A candidate gene sequencing study, Lancet Respir. Med., 6, 603, 10.1016/S2213-2600(18)30135-8
Evans, 2016, Idiopathic Pulmonary Fibrosis: A Genetic Disease That Involves Mucociliary Dysfunction of the Peripheral Airways, Physiol. Rev., 96, 1567, 10.1152/physrev.00004.2016
Juge, 2018, MUC5B Promoter Variant and Rheumatoid Arthritis with Interstitial Lung Disease, N. Engl. J. Med., 379, 2209, 10.1056/NEJMoa1801562
Platenburg, 2020, The MUC5B promoter risk allele for idiopathic pulmonary fibrosis predisposes to asbestosis, Eur. Respir. J., 55, 1902361, 10.1183/13993003.02361-2019