Recent advances in genetic predisposition to clinical acute lung injury

American Journal of Physiology - Lung Cellular and Molecular Physiology

Volumn 296, Issue 5, 2009, Pages

  Gao, Li ^a   Barnes, Kathleen C ^a,b  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b JOHNS HOPKINS ASTHMA AND ALLERGY CENTER   (United States)

Author keywords

Acute respiratory distress syndrome; Genetic association; Genetic epidemiology; Lung injury; Polymorphism

Indexed keywords

ACUTE LUNG INJURY; ADULT RESPIRATORY DISTRESS SYNDROME; DISEASE PREDISPOSITION; DISEASE SEVERITY; GENE IDENTIFICATION; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC PREDISPOSITION; GENETIC VARIABILITY; HUMAN; PRIORITY JOURNAL; REVIEW; TREATMENT OUTCOME;

ACUTE LUNG INJURY; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; IMMUNITY, INNATE; POLYMORPHISM, GENETIC; RESPIRATORY DISTRESS SYNDROME, ADULT;

EID: 66149183017     PISSN: 10400605     EISSN: 15221504     Source Type: Journal    
DOI: 10.1152/ajplung.90269.2008     Document Type: Review

References (68)

1. The International HapMap Project. Nature 426: 789-796, 2003.
2. Adamzik M, Frey U, Sixt S, Knemeyer L, Beiderlinden M, Peters J, Siffert W. ACE I/D but not AGT (-6)A/G polymorphism is a risk factor for mortality in ARDS. Eur Respir J 29: 482-488, 2007. (Pubitemid 46372094)
3. Adamzik M, Frey UH, Rieman K, Sixt S, Beiderlinden M, Siffert W, Peters J. Insertion/deletion polymorphism in the promoter of NFKB1 influences severity but not mortality of acute respiratory distress syndrome. Intensive Care Med 33: 1199-1203, 2007. (Pubitemid 47036889)
4. Adamzik M, Frey UH, Riemann K, Sixt S, Lehmann N, Siffert W, Peters J. Factor V Leiden mutation is associated with improved 30-day survival in patients with acute respiratory distress syndrome. Crit Care Med 36: 1776-1779, 2008.
5. Agnese DM, Calvano JE, Hahm SJ, Coyle SM, Corbett SA, Calvano SE, Lowry SF. Human toll-like receptor 4 mutations but not CD14 polymorphisms are associated with an increased risk of gram-negative infections. J Infect Dis 186: 1522-1525, 2002. (Pubitemid 35286126)
6. Arcaroli J, Fessler MB, Abraham E. Genetic polymorphisms and sepsis. Shock 24: 300-312, 2005. (Pubitemid 41416514)
7. Arcaroli J, Sankoff J, Liu N, Allison DB, Maloney J, Abraham E. Association between urokinase haplotypes and outcome from infection-associated acute lung injury. Intensive Care Med 34: 300-307, 2008.
8. Arcaroli JJ, Hokanson JE, Abraham E, Geraci M, Murphy JR, Bowler RP, Dinarello CA, Silveira L, Sankoff J, Heyland D, Wischmeyer PE, Crapo JD. EC-SOD haplotypes are associated with acute lung injury and mortality. Am J Respir Crit Care Med 179: 105-112, 2009.
9. Bailey SD, Loredo-Osti JC, Lepage P, Faith J, Fontaine J, Desbiens KM, Hudson TJ, Bouchard C, Gaudet D, Perusse L, Vohl MC, Engert JC. Common polymorphisms in the promoter of the visfatin gene (PBEF1) influence plasma insulin levels in a French-Canadian population. Diabetes 55: 2896-2902, 2006.
10. Bajwa EK, Yu CL, Gong MN, Thompson BT, Christiani DC. Pre-B-cell colony-enhancing factor gene polymorphisms and risk of acute respiratory distress syndrome. Crit Care Med 35: 1290-1295, 2007. (Pubitemid 46642656)
11. Barnes KC. Genetic determinants and ethnic disparities in sepsis-associated acute lung injury. Proc Am Thorac Soc 2: 195-201, 2005. (Pubitemid 41500845)
12. Barrett JC, Fry B, Maller J, Daly MJ. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21: 263-265, 2005. (Pubitemid 40202029)
13. Bersten AD, Edibam C, Hunt T, Moran J. Incidence and mortality of acute lung injury and the acute respiratory distress syndrome in three Australian states. Am J Respir Crit Care Med 165: 443-448, 2002. (Pubitemid 34165465)
14. Burnham EL, Taylor WR, Quyyumi AA, Rojas M, Brigham KL, Moss M. Increased circulating endothelial progenitor cells are associated with survival in acute lung injury. Am J Respir Crit Care Med 172: 854-860, 2005. (Pubitemid 41369069)
15. Cardon LR, Bell JI. Association study designs for complex diseases. Nat Rev Genet 2: 91-99, 2001. (Pubitemid 33674000)
16. Chanock SJ, Manolio T, Boehnke M, Boerwinkle E, Hunter DJ, Thomas G, Hirschhorn JN, Abecasis G, Altshuler D, Bailey-Wilson JE, Brooks LD, Cardon LR, Daly M, Donnelly P, Fraumeni JF Jr, Freimer NB, Gerhard DS, Gunter C, Guttmacher AE, Guyer MS, Harris EL, Hoh J, Hoover R, Kong CA, Merikangas KR, Morton CC, Palmer LJ, Phimister EG, Rice JP, Roberts J, Rotimi C, Tucker MA, Vogan KJ, Wacholder S, Wijsman EM, Winn DM, Collins FS. Replicating genotype-phenotype associations. Nature 447: 655-660, 2007. (Pubitemid 46889722)
17. Chi PB, Duggal P, Kao WH, Mathias RA, Grant AV, Stockton ML, Garcia JG, Ingersoll RG, Scott AF, Beaty TH, Barnes KC, Fallin MD. Comparison of SNP tagging methods using empirical data: association study of 713 SNPs on chromosome 12q14.3-12q2421 for asthma and total serum IgE in an African Caribbean population. Genet Epidemiol 30: 609-619, 2006. (Pubitemid 44630931)
18. Child NJ, Yang IA, Pulletz MC, de Courcy-Golder K, Andrews AL, Pappachan VJ, Holloway JW. Polymorphisms in Toll-like receptor 4 and the systemic inflammatory response syndrome. Biochem Soc Trans 31: 652-653, 2003. (Pubitemid 36750749)
19. Cho HY, Jedlicka AE, Reddy SP, Kensler TW, Yamamoto M, Zhang LY, Kleeberger SR. Role of NRF2 in protection against hyperoxic lung injury in mice. Am J Respir Cell Mol Biol 26: 175-182, 2002. (Pubitemid 34107870)
20. Cho HY, Jedlicka AE, Reddy SP, Zhang LY, Kensler TW, Kleeberger SR. Linkage analysis of susceptibility to hyperoxia. Nrf2 is a candidate gene. Am J Respir Cell Mol Biol 26: 42-51, 2002. (Pubitemid 34029819)
21. Cho HY, Reddy SP, Debiase A, Yamamoto M, Kleeberger SR. Gene expression profiling of NRF2-mediated protection against oxidative injury. Free Radic Biol Med 38: 325-343, 2005. (Pubitemid 40081112)
22. Christensen K, Murray JC. What genome-wide association studies can do for medicine. N Engl J Med 356: 1094-1097, 2007.
23. Christie JD. Interleukin-10, age and acute lung injury genetics: the action is in the interaction. Eur Respir J 27: 669-670, 2006.
24. Christie JD, Ma SF, Aplenc R, Li M, Lanken PN, Shah CV, Fuchs B, Albelda SM, Flores C, Garcia JG. Variation in the myosin light chain kinase gene is associated with development of acute lung injury after major trauma. Crit Care Med 36: 2794-2800, 2008.
25. Daly MJ, Rioux JD, Schaffner SF, Hudson TJ, Lander ES. High-resolution haplotype structure in the human genome. Nat Genet 29: 229-232, 2001. (Pubitemid 32952664)
26. Davidson TA, Caldwell ES, Curtis JR, Hudson LD, Steinberg KP. Reduced quality of life in survivors of acute respiratory distress syndrome compared with critically ill control patients. JAMA 281: 354-360, 1999. (Pubitemid 29061040)
27. Doniger SW, Salomonis N, Dahlquist KD, Vranizan K, Lawlor SC, Conklin BR. MAPPFinder: using gene ontology and GenMAPP to create a global gene-expression profile from microarray data. Genome Biol 4: R7, 2003.
28. Dudek SM, Garcia JG. Cytoskeletal regulation of pulmonary vascular permeability. J Appl Physiol 91: 1487-1500, 2001. (Pubitemid 32900340)
29. Flores C, Del Mar Pino-Yanes M, Villar J. A quality assessment of genetic association studies supporting susceptibility and outcome in acute lung injury. Crit Care 12: R130, 2008.
30. Flores C, Ma SF, Maresso K, Ahmed O, Garcia JG. Genomics of acute lung injury. Semin Respir Crit Care Med 27: 389-395, 2006. (Pubitemid 44272607)
31. Flores C, Ma SF, Maresso K, Wade MS, Villar J, Garcia JG. IL6 gene-wide haplotype is associated with susceptibility to acute lung injury. Transl Res 152: 11-17, 2008.
32. Gao L, Flores C, Fan-Ma S, Miller EJ, Moitra J, Moreno L, Wadgaonkar R, Simon B, Brower R, Sevransky J, Tuder RM, Maloney JP, Moss M, Shanholtz C, Yates CR, Meduri GU, Ye SQ, Barnes KC, Garcia JG. Macrophage migration inhibitory factor in acute lung injury: expression, biomarker, and associations. Transl Res 150: 18-29, 2007. (Pubitemid 46935595)
33. Gao L, Grant A, Halder I, Brower R, Sevransky J, Maloney JP, Moss M, Shanholtz C, Yates CR, Meduri GU, Shriver MD, Ingersoll R, Scott AF, Beaty TH, Moitra J, Ma SF, Ye SQ, Barnes KC, Garcia JG. Novel polymorphisms in the myosin light chain kinase gene confer risk for acute lung injury. Am J Respir Cell Mol Biol 34: 487-495, 2006.
34. Gao L, Grant AV, Rafaels N, Stockton-Porter M, Watkins T, Gao P, Chi P, Munoz M, Watson H, Dunston G, Togias A, Hansel N, Sevransky J, Maloney JP, Moss M, Shanholtz C, Brower R, Garcia JG, Grigoryev DN, Cheadle C, Beaty TH, Mathias RA, Barnes KC. Polymorphisms in the myosin light chain kinase gene that confer risk of severe sepsis are associated with a lower risk of asthma. J Allergy Clin Immunol 119: 1111-1118, 2007. (Pubitemid 46654195)
35. Garred P, Strom J, Quist L, Taaning E, Madsen HO. Association of mannose-binding lectin polymorphisms with sepsis and fatal outcome, in patients with systemic inflammatory response syndrome. J Infect Dis 188: 1394-1403, 2003. (Pubitemid 37433712)
36. Gibot S, Cariou A, Drouet L, Rossignol M, Ripoll L. Association between a genomic polymorphism within the CD14 locus and septic shock susceptibility and mortality rate. Crit Care Med 30: 969-973, 2002. (Pubitemid 34508015)
37. Gong MN. Genetic epidemiology of acute respiratory distress syndrome: implications for future prevention and treatment. Clin Chest Med 27: 705-724, 2006.
38. Gong MN, Thompson BT, Williams PL, Zhou W, Wang MZ, Pothier L, Christiani DC. Interleukin-10 polymorphism in position -1082 and acute respiratory distress syndrome. Eur Respir J 27: 674-681, 2006.
39. Gong MN, Wei Z, Xu LL, Miller DP, Thompson BT, Christiani DC. Polymorphism in the surfactant protein-B gene, gender, and the risk of direct pulmonary injury and ARDS. Chest 125: 203-211, 2004. (Pubitemid 38114584)
40. Gong MN, Zhou W, Williams PL, Thompson BT, Pothier L, Boyce P, Christiani DC. -308GA and TNFB polymorphisms in acute respiratory distress syndrome. Eur Respir J 26: 382-389, 2005. (Pubitemid 41264198)
41. Gong MN, Zhou W, Williams PL, Thompson BT, Pothier L, Christiani DC. Polymorphisms in the mannose binding lectin-2 gene and acute respiratory distress syndrome. Crit Care Med 35: 48-56, 2007. (Pubitemid 46035676)
42. Gordon AC, Waheed U, Hansen TK, Hitman GA, Garrard CS, Turner MW, Klein NJ, Brett SJ, Hinds CJ. Mannose-binding lectin polymorphisms in severe sepsis: relationship to levels, incidence, and outcome. Shock 25: 88-93, 2006. (Pubitemid 43755992)
43. Grigoryev DN, Finigan JH, Hassoun P, Garcia JG. Science review: searching for gene candidates in acute lung injury. Crit Care 8: 440-447, 2004. (Pubitemid 40073678)
44. Hildebrand F, Stuhrmann M, van Griensven M, Meier S, Hasenkamp S, Krettek C, Pape HC. Association of IL-8-251A/T polymorphism with incidence of acute respiratory distress syndrome (ARDS) and IL-8 synthesis after multiple trauma. Cytokine 37: 192-199, 2007. (Pubitemid 46880388)
45. Hirschhorn JN, Daly MJ. Genome-wide association studies for common diseases and complex traits. Nat Rev Genet 6: 95-108, 2005. (Pubitemid 40179532)
46. Hizawa N, Yamaguchi E, Takahashi D, Nishihira J, Nishimura M. Functional polymorphisms in the promoter region of macrophage migration inhibitory factor and atopy. Am J Respir Crit Care Med 169: 1014-1018, 2004. (Pubitemid 38543639)
47. Hunter DJ, Kraft P. Drinking from the fire hose-statistical issues in genomewide association studies. N Engl J Med 357: 436-439, 2007. (Pubitemid 47204871)
48. Jerng JS, Yu CJ, Wang HC, Chen KY, Cheng SL, Yang PC. Polymorphism of the angiotensin-converting enzyme gene affects the outcome of acute respiratory distress syndrome. Crit Care Med 34: 1001-1006, 2006.
49. Jersmann HP. Time to abandon dogma: CD14 is expressed by non-myeloid lineage cells. Immunol Cell Biol 83: 462-467, 2005. (Pubitemid 41805746)
50. King HC, Sinha AA. Gene expression profile analysis by DNA microarrays: promise and pitfalls. JAMA 286: 2280-2288, 2001. (Pubitemid 33063151)
51. Lagan AL, Melley DD, Evans TW, Quinlan GJ. Pathogenesis of the systemic inflammatory syndrome and acute lung injury: role of iron mobilization and decompartmentalization. Am J Physiol Lung Cell Mol Physiol 294: L161-L174, 2008.
52. Lagan AL, Quinlan GJ, Mumby S, Melley DD, Goldstraw P, Bellingan GJ, Hill MR, Briggs D, Pantelidis P, du Bois RM, Welsh KI, Evans TW. Variation in iron homeostasis genes between patients with acute respiratory distress syndrome and healthy controls. Chest 133: 1302-1311, 2008.
53. Lin PI, Vance JM, Pericak-Vance MA, Martin ER. No gene is an island: the flip-flop phenomenon. Am J Hum Genet 80: 531-538, 2007. (Pubitemid 46310986)
54. Lin Z, Pearson C, Chinchilli V, Pietschmann SM, Luo J, Pison U, Floros J. Polymorphisms of human SP-A, SP-B, and SP-D genes: association of SP-B Thr131Ile with ARDS. Clin Genet 58: 181-191, 2000.
55. Lorenz E, Mira JP, Frees KL, Schwartz DA. Relevance of mutations in the TLR4 receptor in patients with gram-negative septic shock. Arch Intern Med 162: 1028-1032, 2002. (Pubitemid 34492532)
56. Loza MJ, McCall CE, Li L, Isaacs WB, Xu J, Chang BL. Assembly of inflammation-related genes for pathway-focused genetic analysis. PLoS ONE 2: e1035, 2007.
57. Luk T, Malam Z, Marshall JC. Pre-B cell colony-enhancing factor (PBEF)/visfatin: a novel mediator of innate immunity. J Leukoc Biol 83: 804-816, 2008.
58. MacLaren R, Stringer KA. Emerging role of anticoagulants and fibrinolytics in the treatment of acute respiratory distress syndrome. Pharmacotherapy 27: 860-873, 2007. (Pubitemid 46849430)
59. Manolio TA, Brooks LD, Collins FS. A HapMap harvest of insights into the genetics of common disease. J Clin Invest 118: 1590-1605, 2008.
60. Marshall RP, Webb S, Bellingan GJ, Montgomery HE, Chaudhari B, McAnulty RJ, Humphries SE, Hill MR, Laurent GJ. Angiotensin converting enzyme insertion/deletion polymorphism is associated with susceptibility and outcome in acute respiratory distress syndrome. Am J Respir Crit Care Med 166: 646-650, 2002.
61. Marshall RP, Webb S, Hill MR, Humphries SE, Laurent GJ. Genetic polymorphisms associated with susceptibility and outcome in ARDS. Chest 121: 68S-69S, 2002. (Pubitemid 34248347)
62. Martin TR, Rubenfeld GD, Ruzinski JT, Goodman RB, Steinberg KP, Leturcq DJ, Moriarty AM, Raghu G, Baughman RP, Hudson LD. Relationship between soluble CD14, lipopolysaccharide binding protein, and the alveolar inflammatory response in patients with acute respiratory distress syndrome. Am J Respir Crit Care Med 155: 937-944, 1997. (Pubitemid 27133406)
63. Marzec JM, Christie JD, Reddy SP, Jedlicka AE, Vuong H, Lanken PN, Aplenc R, Yamamoto T, Yamamoto M, Cho HY, Kleeberger SR. Functional polymorphisms in the transcription factor NRF2 in humans increase the risk of acute lung injury. FASEB J 21: 2237-2246, 2007. (Pubitemid 47026458)
64. Max MP, Pison U, Floros J. Frequency of SP-B and SP-A1 gene polymorphisms in acute respiratory distress syndrome (ARDS). Appl Cardiopulm Pathophysiol 6: 111-118, 1996. (Pubitemid 27046005)
65. McKone EF, Shao J, Frangolias DD, Keener CL, Shephard CA, Farin FM, Tonelli MR, Pare PD, Sandford AJ, Aitken ML, Kavanagh TJ. Variants in the glutamate-cysteine-ligase gene are associated with cystic fibrosis lung disease. Am J Respir Crit Care Med 174: 415-419, 2006. (Pubitemid 44223122)
66. Medford AR, Keen LJ, Bidwell JL, Millar AB. Vascular endothelial growth factor gene polymorphism and acute respiratory distress syndrome. Thorax 60: 244-248, 2005. (Pubitemid 40380286)
67. Mendez JL, Hubmayr RD. New insights into the pathology of acute respiratory failure. Curr Opin Crit Care 11: 29-36, 2005. (Pubitemid 40223716)
68. Mizue Y, Ghani S, Leng L, McDonald C, Kong P, Baugh J, Lane SJ, Craft J, Nishihira J, Donnelly SC, Zhu Z, Bucala R. Role for macrophage migration inhibitory factor in asthma. Proc Natl Acad Sci USA 102: 14410-14415, 2005. (Pubitemid 41429711)