Genetic variants associated with idiopathic pulmonary fibrosis susceptibility and mortality: A genome-wide association study

The Lancet Respiratory Medicine

Volumn 1, Issue 4, 2013, Pages 309-317

  Noth, Imre ^a   Zhang, Yingze ^b   Ma, Shwu Fan ^a   Flores, Carlos ^c,d   Barber, Mathew ^a   Huang, Yong ^a   Broderick, Steven M ^a   Wade, Michael S ^e   Hysi, Pirro ^f   Scuirba, Joseph ^b   Richards, Thomas J ^b   Juan Guardela, Brenda M ^b   Vij, Rekha ^a   Han, MeiLan K ^g   Martinez, Fernando J ^g   Kossen, Karl ^h   Seiwert, Scott D ^h   Christie, Jason D ⁱ   Nicolae, Dan ^a   Kaminski, Naftali ^b   Garcia, Joe G N ^e   more..

^a UNIVERSITY OF CHICAGO   (United States)

^b UNIVERSITY OF PITTSBURGH MEDICAL CENTER   (United States)

^c INSTITUTO DE SALUD CARLOS III   (Spain)

^d HOSPITAL UNIVERSITARIO NUESTRA SEÑORA DE CANDELARIA   (Spain)

^e UNIVERSITY OF ILLINOIS AT CHICAGO   (United States)

^f KING'S COLLEGE LONDON   (United Kingdom)

^g UNIVERSITY OF MICHIGAN   (United States)

^h InterMune   (United States)

ⁱ HOSPITAL OF THE UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CARBON MONOXIDE; DNA;

ADULT; AGED; ALLELE; ARTICLE; CHROMOSOME 17Q; CONTROLLED STUDY; DISEASE PREDISPOSITION; DISEASE SEVERITY; FEMALE; FIBROSING ALVEOLITIS; FOLLOW UP; FORCED VITAL CAPACITY; GENE; GENE EXPRESSION PROFILING; GENE FREQUENCY; GENE IDENTIFICATION; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENETIC ASSOCIATION; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE; HOMOZYGOTE; HUMAN; LUNG DIFFUSION CAPACITY; MAJOR CLINICAL STUDY; MALE; MDGA2 GENE; MORTALITY; MUC5B GENE; PHENOTYPE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SPPL2C GENE; TOLLIP GENE;

ADULT; AGED; DNA; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HUMANS; IDIOPATHIC PULMONARY FIBROSIS; LINKAGE DISEQUILIBRIUM; MALE; MIDDLE AGED; PHENOTYPE; RETROSPECTIVE STUDIES; SURVIVAL RATE; UNITED STATES;

EID: 84880043679     PISSN: 22132600     EISSN: None     Source Type: Journal    
DOI: 10.1016/S2213-2600(13)70045-6     Document Type: Article

References (37)

1. Gribbin J, Hubbard RB, Le Jeune I, Smith CJ, West J, Tata LJ Incidence and mortality of idiopathic pulmonary fibrosis and sarcoidosis in the UK. Thorax 2006, 61:980-985.
2. Raghu G, Weycker D, Edelsberg J, Bradford WZ, Oster G Incidence and prevalence of idiopathic pulmonary fibrosis. Am J Respir Crit Care Med 2006, 174:810-816.
3. Raghu G, Collard HR, Egan JJ, et al. An official ATS/ERS/JRS/ALAT statement: idiopathic pulmonary fibrosis: evidence-based guidelines for diagnosis and management. Am J Respir Crit Care Med 2011, 183:788-824.
4. Raghu G, Anstrom KJ, King TE, Lasky JA, Martinez FJ Prednisone, azathioprine, and N-acetylcysteine for pulmonary fibrosis. N Engl J Med 2012, 366:1968-1977.
5. Seibold MA, Wise AL, Speer MC, et al. A common MUC5B promoter polymorphism and pulmonary fibrosis. N Engl J Med 2011, 364:1503-1512.
6. Zhang Y, Noth I, Garcia JG, Kaminski N A variant in the promoter of MUC5B and idiopathic pulmonary fibrosis. N Engl J Med 2011, 364:1576-1577.
7. Alder JK, Chen JJ, Lancaster L, et al. Short telomeres are a risk factor for idiopathic pulmonary fibrosis. Proc Natl Acad Sci USA 2008, 105:13051-13056.
8. Mushiroda T, Wattanapokayakit S, Takahashi A, et al. A genome-wide association study identifies an association of a common variant in TERT with susceptibility to idiopathic pulmonary fibrosis. J Med Genet 2008, 45:654-656.
9. Maitra M, Wang Y, Gerard RD, Mendelson CR, Garcia CK Surfactant protein A2 mutations associated with pulmonary fibrosis lead to protein instability and endoplasmic reticulum stress. J Biol Chem 2010, 285:22103-22113.
10. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 2007, 447:661-678. Wellcome Trust Case Control Consortium.
11. Raghu G, Brown KK, Bradford WZ, et al. A placebo-controlled trial of interferon gamma-1b in patients with idiopathic pulmonary fibrosis. N Engl J Med 2004, 350:125-133.
12. Lederer DJ, Kawut SM, Wickersham N, et al. Obesity and primary graft dysfunction after lung transplantation: the Lung Transplant Outcomes Group Obesity Study. Am J Respir Crit Care Med 2011, 184:1055-1061.
13. Noth I, Anstrom KJ, Calvert SB, et al. A placebo-controlled randomized trial of warfarin in idiopathic pulmonary fibrosis. Am J Respir Crit Care Med 2012, 186:88-95.
14. Idiopathic pulmonary fibrosis: diagnosis and treatment-international consensus statement. Am J Respir Crit Care Med 2000, 161:646-664. American Thoracic Society, European Respiratory SocietyEuropean Respiratory Society.
15. Pe'er I, Yelensky R, Altshuler D, Daly MJ Estimation of the multiple testing burden for genomewide association studies of nearly all common variants. Genet Epidemiol 2008, 32:381-385.
16. Gabriel SB, Schaffner SF, Nguyen H, et al. The structure of haplotype blocks in the human genome. Science 2002, 296:2225-2229.
17. R: a language and environment for statistical computing 2012, R Development Core Team, R Foundation for Statistical Computing, Vienna.
18. Han B, Eskin E Random-effects model aimed at discovering associations in meta-analysis of genome-wide association studies. Am J Hum Genet 2011, 88:586-598.
19. Nathan SD, Shlobin OA, Weir N, et al. Long-term course and prognosis of idiopathic pulmonary fibrosis in the new millennium. Chest 2011, 140:221-229.
20. Bulut Y, Faure E, Thomas L, Equils O, Arditi M Cooperation of Toll-like receptor 2 and 6 for cellular activation by soluble tuberculosis factor and Borrelia burgdorferi outer surface protein A lipoprotein: role of Toll-interacting protein and IL-1 receptor signaling molecules in Toll-like receptor 2 signaling. J Immunol 2001, 167:987-994.
21. Zhu L, Wang L, Luo X, et al. Tollip, an intracellular trafficking protein, is a novel modulator of the transforming growth factor-beta signaling pathway. J Biol Chem 2012, 287:39653-39663.
22. Kimman TG, Banus S, Reijmerink N, et al. Association of interacting genes in the toll-like receptor signaling pathway and the antibody response to pertussis vaccination. PLoS One 2008, 3:e3665.
23. Shah JA, Vary JC, Chau TT, et al. Human TOLLIP regulates TLR2 and TLR4 signaling and its polymorphisms are associated with susceptibility to tuberculosis. J Immunol 2012, 189:1737-1746.
24. Schimming TT, Parwez Q, Petrasch-Parwez E, Nothnagel M, Epplen JT, Hoffjan S Association of toll-interacting protein gene polymorphisms with atopic dermatitis. BMC Dermatol 2007, 7:3.
25. Song Z, Yin J, Yao C, et al. Variants in the Toll-interacting protein gene are associated with susceptibility to sepsis in the Chinese Han population. Crit Care 2011, 15:R12.
26. Rabinovich EI, Kapetanaki MG, Steinfeld I, et al. Global methylation patterns in idiopathic pulmonary fibrosis. PLoS One 2012, 7:e33770.
27. Trujillo G, Meneghin A, Flaherty KR, et al. TLR9 differentiates rapidly from slowly progressing forms of idiopathic pulmonary fibrosis. Sci Transl Med 2010, 10:57ra82.
28. Steenholdt C, Andresen L, Pedersen G, Hansen A, Brynskov J Expression and function of toll-like receptor 8 and Tollip in colonic epithelial cells from patients with inflammatory bowel disease. Scand J Gastroenterol 2009, 44:195-204.
29. Vassilakis DA, Sourvinos G, Markatos M, et al. Microsatellite DNA instability and loss of heterozygosity in pulmonary sarcoidosis. Am J Respir Crit Care Med 1999, 160:1729-1733.
30. Vassilakis DA, Sourvinos G, Spandidos DA, Siafakas NM, Bouros D Frequent genetic alterations at the microsatellite level in cytologic sputum samples of patients with idiopathic pulmonary fibrosis. Am J Respir Crit Care Med 2000, 162:1115-1119.
31. Kim WJ, Sheen SS, Kim TH, et al. Association between CRHR1 polymorphism and improved lung function in response to inhaled corticosteroid in patients with COPD. Respirology 2009, 14:260-263.
32. Tan TY, Aftimos S, Worgan L, et al. Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome. J Med Genet 2009, 46:480-489.
33. Zody MC, Garber M, Adams DJ, et al. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. Nature 2006, 440:1045-1049.
34. Boettger LM, Handsaker RE, Zody MC, McCarroll SA Structural haplotypes and recent evolution of the human 17q21.31 region. Nat Genet 2012, 44:881-885.
35. About the project Database of Genomic Variants, (accessed Feb 1, 2013). http://projects.tcag.ca/variation/project.html.
36. Richards TJ, Kaminski N, Baribaud F, et al. Peripheral blood proteins predict mortality in idiopathic pulmonary fibrosis. Am J Respir Crit Care Med 2012, 185:67-76.
37. Hindorff LA, Sethupathy P, Junkins HA, et al. Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Proc Natl Acad Sci USA 2009, 106:9362-9367.