Coward WR, Saini G, Jenkins G (2010) The pathogenesis of idiopathic pulmonary fibrosis. Ther Adv Respir Dis 4:367–388. https://doi.org/10.1177/1753465810379801
Raghu G, Remy-Jardin M, Myers JL, Richeldi L, Ryerson CJ, Lederer DJ et al (2018) Diagnosis of idiopathic pulmonary fibrosis. An official ATS/ERS/JRS/ALAT clinical practice guideline. Am J Respir Crit Care Med 198:e44–68. https://doi.org/10.1164/rccm.201807-1255ST
Selman M, King J, Pardo A (2001) Idiopathic pulmonary fibrosis: prevailing and evolving hypotheses about its pathogenesis and implications for therapy. Ann Intern Med 134:136–151
Lv M, Liu Y, Ma S, Yu Z (2019) Current advances in idiopathic pulmonary fibrosis: the pathogenesis, therapeutic strategies and candidate molecules. Future Med Chem 11:2595–2620. https://doi.org/10.4155/fmc-2019-0111
CAS Article PubMed Google Scholar
Li X, Kim SE, Chen TY, Wang J, Yang X, Tabib T et al (2020) Toll Interacting Protein protects bronchial epithelial cells from bleomycin-induced apoptosis. FASEB J 34:9884. https://doi.org/10.1096/fj.201902636RR
CAS Article PubMed Google Scholar
Spagnolo P, Grunewald J, Du Bois RM (2014) Genetic determinants of pulmonary fibrosis: evolving concepts. Lancet Respir Med 2:416–428
Noth I, Zhang Y, Ma SF, Flores C, Barber M, Huang Y et al (2013) Genetic variants associated with idiopathic pulmonary fibrosis susceptibility and mortality: a genome-wide association study. Lancet Respir Med 1:309–317. https://pubmed.ncbi.nlm.nih.gov/24429156/
Fingerlin TE, Murphy E, Zhang W, Peljto AL, Brown KK, Steele MP et al (2013) Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis. Nat Genet 45:613–620. https://www.nature.com/articles/ng.2609
Allen RJ, Porte J, Braybrooke R, Flores C, Fingerlin TE, Oldham JM et al (2017) Genetic variants associated with susceptibility to idiopathic pulmonary fibrosis in people of European ancestry: a genome-wide association study. Lancet Respir Med 5:869–880. https://pubmed.ncbi.nlm.nih.gov/29066090/
Newton CA, Molyneaux PL, Oldham JM (2018) Clinical genetics in interstitial lung disease. Front Med 5:116. https://doi.org/10.3389/fmed.2018.00116
Coghlan MA, Shifren A, Huang HJ, Russell TD, Mitra RD, Zhang Q et al (2014) Sequencing of idiopathic pulmonary fibrosis-related genes reveals independent single gene associations. BMJ Open Respir Res 1:e000057. https://bmjopenrespres.bmj.com/content/1/1/e000057
Petrovski S, Todd JL, Durheim MT, Wang Q, Chien JW, Kelly FL et al (2017) An exome sequencing study to assess the role of rare genetic variation in pulmonary fibrosis. Am J Respir Crit Care Med 196:82–93. https://pubmed.ncbi.nlm.nih.gov/28099038/
Seibold MA, Wise AL, Speer MC, Steele MP, Brown KK, Loyd JE et al (2011) A common MUC5B promoter polymorphism and pulmonary fibrosis. N Engl J Med 364:1503–1512. https://pubmed.ncbi.nlm.nih.gov/21506741/
Zhang Y, Noth I, Garcia JGN, Kaminski N (2011) A variant in the promoter of MUC5B and idiopathic pulmonary fibrosis. N Engl J Med.364:1576–1577. https://doi.org/10.1056/NEJMc1013504
Peljto AL, Zhang Y, Fingerlin TE, Shwu-Fan M, Garcia JGN, Richards TJ et al (2013) Association between the MUC5B promoter polymorphism and survival in patients with idiopathic pulmonary fibrosis. JAMA 309:2232–2239. https://pubmed.ncbi.nlm.nih.gov/23695349/
Evans CM, Fingerlin TE, Schwarz MI, Lynch D, Kurche J, Warg L et al (2016) Idiopathic pulmonary fibrosis: a genetic disease that involves mucociliary dysfunction of the peripheral airways. Physiol Rev 96:1567–1591. https://doi.org/10.1152/physrev.00004.2016
CAS Article PubMed PubMed Central Google Scholar
Ramos E, Lopes C, Barros H (2004) Investigating the effect of nonparticipation using a population-based case–control study on myocardial infarction. Ann Epidemiol 14:437–441
Raghu G, Collard HR, Egan JJ, Martinez FJ, Behr J, Brown KK et al (2011) An Official ATS/ERS/JRS/ALAT Statement: Idiopathic pulmonary fibrosis: evidence-based guidelines for diagnosis and management. Am J Respir Crit Care Med 183:788–824. https://doi.org/10.1164/rccm.2009-040GL
Article PubMed PubMed Central Google Scholar
Robalo Cordeiro C, Campos P, Carvalho L, Campainha S, Clemente S, Figueiredo L et al (2016) Consensus document for the diagnosis and treatment of idiopathic pulmonary fibrosis: joint consensus of Sociedade Portuguesa de Pneumologia, Sociedade Portuguesa de Radiologia e Medicina Nuclear e Sociedade Portuguesa de Anatomia Patológica. Rev Port Pneumol (English Ed) 22:112–122
Raghu G, Rochwerg B, Zhang Y et al (2015) An Official ATS/ERS/JRS/ALAT Clinical practice guideline: treatment of idiopathic pulmonary fibrosis. An update of the 2011 clinical practice guideline [published correction appears in Am J Respir Crit Care Med. 2015 Sep 1;192(5):644. Dosage error in article text]. Am J Respir Crit Care Med 192:e3–e19. https://doi.org/10.1164/rccm.201506-1063ST
Stephens M, Smith NJ, Donnelly P (2001) A new statistical method for haplotype reconstruction from population data. Am J Hum Genet 68:978–989
Stephens M, Scheet P (2005) Accounting for decay of linkage disequilibrium in haplotype inference and missing-data imputation. Am J Hum Genet 76:449–462. https://doi.org/10.1086/428594
CAS Article PubMed PubMed Central Google Scholar
Barrett JC, Fry B, Maller J, Daly MJ (2005) Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21:263–265. https://pubmed.ncbi.nlm.nih.gov/15297300/
Ritchie MD, Hahn LW, Roodi N, Bailey LR, Dupont WD, Parl FF et al (2001) Multifactor-dimensionality reduction reveals high-order interactions among estrogen-metabolism genes in sporadic breast cancer. Am J Hum Genet 69:138–147. https://pubmed.ncbi.nlm.nih.gov/11404819/
Moore JH, Andrews PC (2015) Epistasis analysis using multifactor dimensionality reduction. Methods Mol Biol 1253:301–314. https://doi.org/10.1007/978-1-4939-2155-3_16
Greene CS, Himmelstein DS, Nelson HH, Kelsey KT, Williams SM, Andrew AS et al (2010) Enabling personal genomics with an explicit test of epistasis. Pacific Symp Biocomput 2010:327–336. https://doi.org/10.1142/9789814295291_0035
Moore JH, Hu T (2015) Epistasis analysis using information theory. Methods Mol Biol 1253:257–268. https://doi.org/10.1007/978-1-4939-2155-3_13
Zhu QQ, Zhang XL, Zhang SM, Tang SW, Min HY, Yi L et al (2015) Association between the MUC5B promoter polymorphism rs35705950 and idiopathic pulmonary fibrosis: a meta-analysis and trial sequential analysis in caucasian and asian populations. Medicine (Baltimore) 94:e1901. https://pubmed.ncbi.nlm.nih.gov/26512610/
Stock CJ, Sato H, Fonseca C, Banya WAS, Molyneaux PL, Adamali H et al (2013) Mucin 5B promoter polymorphism is associated with idiopathic pulmonary fibrosis but not with development of lung fibrosis in systemic sclerosis or sarcoidosis. Thorax 68:436–441. https://thorax.bmj.com/content/68/5/436
Horimasu Y, Ohshimo S, Bonella F, Tanaka S, Ishikawa N, Hattori N et al (2015) MUC5B promoter polymorphism in Japanese patients with idiopathic pulmonary fibrosis. Respirology 20(3):439–444. https://doi.org/10.1111/resp.12466
Peljto AL, Selman M, Kim DS, Murphy E, Tucker L, Pardo A, et al (2015) The MUC5B promoter polymorphism is associated with idiopathic pulmonary fibrosis in a Mexican cohort but is rare among Asian ancestries. Chest 147:460–464. https://pubmed.ncbi.nlm.nih.gov/25275363/
Wang C, Zhuang Y, Guo W, Cao L, Zhang H, Xu L et al (2014) Mucin 5B promoter polymorphism is associated with susceptibility to interstitial lung diseases in Chinese males. PLoS One 9:e104919. https://doi.org/10.1371/journal.pone.0104919
Jiang H, Hu Y, Shang L, Li Y, Yang L, Chen Y (2015) Association between MUC5B polymorphism and susceptibility and severity of idiopathic pulmonary fibrosis. Int J Clin Exp Pathol 8:14953–14958
PubMed PubMed Central Google Scholar
Van Der Vis JJ, Snetselaar R, Kazemier KM, Ten Klooster L, Grutters JC, Van Moorsel CHM (2016) Effect of Muc5b promoter polymorphism on disease predisposition and survival in idiopathic interstitial pneumonias. Respirology 21:712–717. https://doi.org/10.1111/resp.12728
Bonella F, Campo I, Zorzetto M, Boerner E, Ohshimo S, Theegarten D et al (2021) Potential clinical utility of MUC5B und TOLLIP single nucleotide polymorphisms (SNPs) in the management of patients with IPF. Orphanet J Rare Dis 16(1):1–9. https://doi.org/10.1186/s13023-021-01750-3
Oldham JM, Ma SF, Martinez FJ, Anstrom KJ, Raghu G, Schwartz DA et al (2015) TOLLIP, MUC5B, and the response to N-acetylcysteine among individuals with idiopathic pulmonary fibrosis. Am J Respir Crit Care Med 192(12):1475–1482. https://doi.org/10.1164/rccm.201505-1010OC
CAS Article PubMed PubMed Central Google Scholar
Auton A, Abecasis GR, Altshuler DM, Durbin RM, Bentley DR, Chakravarti A et al (2015) A global reference for human genetic variation. Nature 526:68–74. https://www.nature.com/articles/nature15393
Shirali M, Knott SA, Pong-Wong R, Navarro P, Haley CS (2018) Haplotype heritability mapping method uncovers missing heritability of complex traits. Sci Reports 8:1–9. https://www.nature.com/articles/s41598-018-23307-4
Schrodi SJ, Garcia VE, Rowland C, Jones HB (2006) Pairwise linkage disequilibrium under disease models. Eur J Hum Genet 15:212–220. https://www.nature.com/articles/5201731
Khankhanian P, Gourraud PA, Lizee A, Goodin DS (2015) Haplotype-based approach to known MS-associated regions increases the amount of explained risk. J Med Genet 52:587–594. https://pubmed.ncbi.nlm.nih.gov/26185143/
Biondini D, Cocconcelli E, Bernardinello N, Lorenzoni G, Rigobello C, Lococo S et al (2021) Prognostic role of MUC5B rs35705950 genotype in patients with idiopathic pulmonary fibrosis (IPF) on antifibrotic treatment. Respir Res 22:98. https://doi.org/10.1186/s12931-021-01694-z
Li X, Goobie GC, Gregory AD, Kass DJ, Zhang Y (2021) Toll-interacting protein in pulmonary diseases abiding by the goldilocks principle. Am J Respir Cell Mol Biol 64:536–546. https://doi.org/10.1165/rcmb.2020-0470TR
CAS Article PubMed PubMed Central Google Scholar
Obayashi Y, Yamadori I, Fujita J, Yoshinouchi T, Ueda N, Takahara J (1997) The role of neutrophils in the pathogenesis of idiopathic pulmonary fibrosis. Chest 112:1338–1343
Baumann M, Pham CTN, Benarafa C (2013) SerpinB1 is critical for neutrophil survival through cell-autonomous inhibition of cathepsin G. Blood 121:3900–3907. http://ashpublications.org/blood/article-pdf/121/19/3900/1218553/3900.pdf
Hruz T, Laule O, Szabo G, Wessendorp F, Bleuler S, Oertle L et al (2008) Genevestigator v3: a reference expression database for the meta-analysis of transcriptomes. Adv Bioinform 2008:420747. https://doi.org/10.1155/2008/420747
Gong D, Farley K, White M, Hartshorn KL, Benarafa C, Remold-O’Donnell E (2011) Critical role of serpinB1 in regulating inflammatory responses in pulmonary influenza infection. J Infect Dis 204:592–600. https://doi.org/10.1093/infdis/jir352
CAS Article PubMed PubMed Central Google Scholar
Gharaee-Kermani M, Hu B, Phan SH, Gyetko MR (2008) The role of urokinase in idiopathic pulmonary fibrosis and implication for therapy. Expert Opin Investig Drugs 17:905–916. https://doi.org/10.1517/13543784.17.6.905
CAS Article PubMed Google Scholar
Tucker TA, Idell S (2021) The contribution of the urokinase plasminogen activator and the urokinase receptor to pleural and parenchymal lung injury and repair: a narrative review. Int J Mol Sci 22:1437. https://doi.org/10.3390/ijms22031437
CAS Article PubMed PubMed Central Google Scholar
Idell S, Cohen AB (1985) Bronchoalveolar lavage in patients with the adult respiratory distress syndrome. Clin Chest Med 6:459–471
Chang LC, Tseng JC, Hua CC, Liu YC, Shieh W Bin, Wu HP (2006) Gene polymorphisms of fibrinolytic enzymes in coal workers’ pneumoconiosis. Arch Environ Occup Health 61:61–66. https://pubmed.ncbi.nlm.nih.gov/17649957/
留言 (0)