Genetic Testing in Interstitial Lung Disease: Potential Benefits and Unintended Risks

Selman M, Lin HM, Montano M, Jenkins AL, Estrada A, Lin Z, et al. Surfactant protein A and B genetic variants predispose to idiopathic pulmonary fibrosis. Hum Genet. 2003;113(6):542–50.

Article  CAS  PubMed  Google Scholar 

Crossno PF, Polosukhin VV, Blackwell TS, Johnson JE, Markin C, Moore PE, et al. Identification of early interstitial lung disease in an individual with genetic variations in ABCA3 and SFTPC. Chest. 2010;137(4):969–73.

Article  CAS  PubMed  PubMed Central  Google Scholar 

van Moorsel CH, van Oosterhout MF, Barlo NP, de Jong PA, van der Vis JJ, Ruven HJ, et al. Surfactant protein C mutations are the basis of a significant portion of adult familial pulmonary fibrosis in a dutch cohort. Am J Respir Crit Care Med. 2010;182(11):1419–25.

Article  PubMed  Google Scholar 

Seibold MA, Wise AL, Speer MC, Steele MP, Brown KK, Loyd JE, et al. A common MUC5B promoter polymorphism and pulmonary fibrosis. N Engl J Med. 2011;364(16):1503–12.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Armanios M. Telomeres and age-related disease: how telomere biology informs clinical paradigms. J Clin Invest. 2013;123(3):996–1002.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Juge PA, Lee JS, Ebstein E, Furukawa H, Dobrinskikh E, Gazal S, et al. MUC5B promoter variant and rheumatoid arthritis with interstitial lung disease. N Engl J Med. 2018;379(23):2209–19.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Ley B, Newton CA, Arnould I, Elicker BM, Henry TS, Vittinghoff E, et al. The MUC5B promoter polymorphism and telomere length in patients with chronic hypersensitivity pneumonitis: an observational cohort-control study. Lancet Respir Med. 2017;5(8):639–47.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Hunninghake GM, Hatabu H, Okajima Y, Gao W, Dupuis J, Latourelle JC, et al. MUC5B promoter polymorphism and interstitial lung abnormalities. N Engl J Med. 2013;368(23):2192–200.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Putman RK, Gudmundsson G, Araki T, Nishino M, Sigurdsson S, Gudmundsson EF, et al. The MUC5B promoter polymorphism is associated with specific interstitial lung abnormality subtypes. Eur Respir J. 2017;50(3).

Grant-Orser A, Avitzur N, Morisset J, Fell CD, Johannson KA. Perceptions of genetic testing: a mixed-methods study of patients with pulmonary fibrosis and their first-degree relatives. Ann Am Thorac Soc. 2022;19(8):1305–12.

Article  PubMed  Google Scholar 

Garcia-Sancho C, Buendia-Roldan I, Fernandez-Plata MR, Navarro C, Perez-Padilla R, Vargas MH, et al. Familial pulmonary fibrosis is the strongest risk factor for idiopathic pulmonary fibrosis. Respir Med. 2011;105(12):1902–7.

Article  PubMed  Google Scholar 

Cutting CC, Bowman WS, Dao N, Pugashetti JV, Garcia CK, Oldham JM, et al. Family History of pulmonary fibrosis predicts worse survival in patients with interstitial lung disease. Chest. 2021;159(5):1913–21.

Article  PubMed  PubMed Central  Google Scholar 

Kropski JA, Young LR, Cogan JD, Mitchell DB, Lancaster LH, Worrell JA, et al. Genetic Evaluation and testing of patients and families with idiopathic pulmonary fibrosis. Am J Respir Crit Care Med. 2017;195(11):1423–8.

Article  CAS  PubMed  PubMed Central  Google Scholar 

McGroder CF, Zhang D, Choudhury M, Podolanczuk AJ, Lederer D, Hoffman EA, et al. Radiographic lung abnormalities in first-degree relatives of patients with different subtypes of pulmonary fibrosis. Chest. 2023.

Hunninghake GM, Quesada-Arias LD, Carmichael NE, Martinez Manzano JM, Poli De Frias S, Baumgartner MA, et al. Interstitial lung disease in relatives of patients with pulmonary fibrosis. Am J Respir Crit Care Med. 2020;201(10):1240–8.

Krauss E, Gehrken G, Drakopanagiotakis F, Tello S, Dartsch RC, Maurer O, et al. Clinical characteristics of patients with familial idiopathic pulmonary fibrosis (f-IPF). BMC Pulm Med. 2019;19(1):130.

Article  PubMed  PubMed Central  Google Scholar 

Peljto AL, Zhang Y, Fingerlin TE, Ma SF, Garcia JG, Richards TJ, et al. Association between the MUC5B promoter polymorphism and survival in patients with idiopathic pulmonary fibrosis. JAMA. 2013;309(21):2232–9.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Putman RK, Gudmundsson G, Axelsson GT, Hida T, Honda O, Araki T, et al. Imaging patterns are associated with interstitial lung abnormality progression and mortality. Am J Respir Crit Care Med. 2019;200(2):175–83.

Article  PubMed  PubMed Central  Google Scholar 

Araki T, Putman RK, Hatabu H, Gao W, Dupuis J, Latourelle JC, et al. Development and progression of interstitial lung abnormalities in the framingham heart study. Am J Respir Crit Care Med. 2016;194(12):1514–22.

Article  PubMed  PubMed Central  Google Scholar 

Hida T, Nishino M, Hino T, Lu J, Putman RK, Gudmundsson EF, et al. Traction bronchiectasis/bronchiolectasis is associated with interstitial lung abnormality mortality. Eur J Radiol. 2020;129: 109073.

Article  PubMed  PubMed Central  Google Scholar 

Putman RK, Hatabu H, Araki T, Gudmundsson G, Gao W, Nishino M, et al. Association Between interstitial lung abnormalities and all-cause mortality. JAMA. 2016;315(7):672–81.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Hobbs BD, Putman RK, Araki T, Nishino M, Gudmundsson G, Gudnason V, et al. Overlap of genetic risk between interstitial lung abnormalities and idiopathic pulmonary fibrosis. Am J Respir Crit Care Med. 2019;200(11):1402–13.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Putman RK, Axelsson GT, Ash SY, Sanders JL, Menon AA, Araki T, et al. Interstitial lung abnormalities are associated with decreased mean telomere length. Eur Respir J. 2022;60(2).

Oldham JM, Ma SF, Martinez FJ, Anstrom KJ, Raghu G, Schwartz DA, et al. TOLLIP, MUC5B, and the response to N-acetylcysteine among individuals with idiopathic pulmonary fibrosis. Am J Respir Crit Care Med. 2015;192(12):1475–82.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Alder JK, Armanios M. Telomere-mediated lung disease. Physiol Rev. 2022;102(4):1703–20.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Gansner JM, Rosas IO. Telomeres in lung disease. Transl Res. 2013;162(6):343–52.

Article  CAS  PubMed  Google Scholar 

Cronkhite JT, Xing C, Raghu G, Chin KM, Torres F, Rosenblatt RL, et al. Telomere shortening in familial and sporadic pulmonary fibrosis. Am J Respir Crit Care Med. 2008;178(7):729–37.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Snetselaar R, van Moorsel CHM, Kazemier KM, van der Vis JJ, Zanen P, van Oosterhout MFM, et al. Telomere length in interstitial lung diseases. Chest. 2015;148(4):1011–8.

Article  PubMed  Google Scholar 

Stuart BD, Lee JS, Kozlitina J, Noth I, Devine MS, Glazer CS, et al. Effect of telomere length on survival in patients with idiopathic pulmonary fibrosis: an observational cohort study with independent validation. Lancet Respir Med. 2014;2(7):557–65.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Newton CA, Batra K, Torrealba J, Kozlitina J, Glazer CS, Aravena C, et al. Telomere-related lung fibrosis is diagnostically heterogeneous but uniformly progressive. Eur Respir J. 2016;48(6):1710–20.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Ley B, Liu S, Elicker BM, Henry TS, Vittinghoff E, Golden JA, et al. Telomere length in patients with unclassifiable interstitial lung disease: a cohort study. Eur Respir J. 2020;56(2).

Hoffman TW, van der Vis JJ, Biesma DH, Grutters JC, van Moorsel CHM. Extrapulmonary manifestations of a telomere syndrome in patients with idiopathic pulmonary fibrosis are associated with decreased survival. Respirology. 2022;27(11):959–65.

Article  PubMed  Google Scholar 

Alder JK, Chen JJ, Lancaster L, Danoff S, Su SC, Cogan JD, et al. Short telomeres are a risk factor for idiopathic pulmonary fibrosis. Proc Natl Acad Sci U S A. 2008;105(35):13051–6.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Alder JK, Hanumanthu VS, Strong MA, DeZern AE, Stanley SE, Takemoto CM, et al. Diagnostic utility of telomere length testing in a hospital-based setting. Proc Natl Acad Sci U S A. 2018;115(10):E2358–65.

Article  PubMed  PubMed Central  Google Scholar 

Antoniou KM, Walsh SL, Hansell DM, Rubens MR, Marten K, Tennant R, et al. Smoking-related emphysema is associated with idiopathic pulmonary fibrosis and rheumatoid lung. Respirology. 2013;18(8):1191–6.

Article  PubMed  Google Scholar 

Salisbury ML, Hewlett JC, Ding G, Markin CR, Douglas K, Mason W, et al. Development and progression of radiologic abnormalities in individuals at risk for familial interstitial lung disease. Am J Respir Crit Care Med. 2020;201(10):1230–9.

Article  PubMed  PubMed Central  Google Scholar 

Cottin V, Selman M, Inoue Y, Wong AW, Corte TJ, Flaherty KR, et al. Syndrome of combined pulmonary fibrosis and emphysema: an official ATS/ERS/JRS/ALAT research statement. Am J Respir Crit Care Med. 2022;206(4):e7–41.

Article  PubMed  Google Scholar 

Bellou V, Belbasis L, Evangelou E. Tobacco smoking and risk for pulmonary fibrosis: a prospective cohort study from the UK Biobank. Chest. 2021;160(3):983–93.

Article  PubMed 

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