Genetics of acute respiratory distress syndrome: Challenges, approaches, surfactant proteins as candidate genes

Seminars in Respiratory and Critical Care Medicine

Volumn 24, Issue 2, 2003, Pages 161-168

  Floros, Joanna ^a   Pavlovic, Jelena ^a  

^a PENN STATE COLLEGE OF MEDICINE   (United States)

Author keywords

Case control study; Genetic variants; Multigenic; SP A; Surfactant protein B (SP B); Transmission disequilibrium test (TDT)

Indexed keywords

SURFACTANT PROTEIN A;

ADULT RESPIRATORY DISTRESS SYNDROME; ARTICLE; CASE CONTROL STUDY; DISEASE TRANSMISSION; GENE LINKAGE DISEQUILIBRIUM; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GENETIC VARIABILITY; GENETICS; HERITABILITY; HUMAN; MULTIGENE FAMILY; PHENOTYPE; PRIORITY JOURNAL;

EID: 0037734196     PISSN: 10693424     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2003-39015     Document Type: Article

References (87)

1. Ashbaugh DG, Bigelow DB, Petty TL, Levine BE. Acute respiratory distress in adults. Lancet 1967;2:319-323
2. Murray JF, Matthay MA, Luce JM, Flick MR. An expanded definition of the adult respiratory distress syndrome. Am Rev Respir Dis 1988;138:720-723
3. Bernard GR, Artigas A, Brigham KL, et al. The American-European Consensus Conference on ARDS: definitions, mechanisms, relevant outcomes, and clinical trial coordination. Am J Respir Crit Care Med 1994;149(3 pt 1):818-824
4. Ware LB, Matthay MA. The acute respiratory distress syndrome. N Engl J Med 2000;342:1334-1349
5. Pelosi P, Gattinoni L. Acute respiratory distress syndrome of pulmonary and extra-pulmonary origin: fancy or reality? Intensive Care Med 2001;27:457-460
6. Gattinoni L, Pelosi P, Suter PM, et al. Acute respiratory distress syndrome caused by pulmonary and extrapulmonary disease: different syndromes? Am J Respir Crit Care Med 1998;158:3-11
7. Goodman LR, Fumagalli R, Tagliabue P, et al. Adult respiratory distress syndrome due to pulmonary and extrapulmonary causes: CT, clinical, and functional correlations. Radiology 1999;213:545-552
8. Brower RG, Ware LB, Berthiaume Y, Matthay MA. Treatment of ARDS. Chest 2001;120:1347-1367
9. Sporik R, Platts-Mills TA. Allergen exposure and the development of asthma. Thorax 2001;56(suppl 2):ii58-63
10. Svanes C, Jarvis D, Chinn S, Burney P. Childhood environment and adult atopy: results from the European Community Respiratory Health Survey. J Allergy Clin Immunol 1999;103(3 pt 1):415-420
11. Bonini S, Rasi G, Torre A, et al. The heterogeneity of allergic phenotypes: genetic and environmental interactions. Ann Allergy Asthma Immunol 2001;87(6 suppl 3):S48-S51
12. Fahy JV. Remodeling of the airway epithelium in asthma. Am J Respir Crit Care Med 2001;164(10 pt 2):S46-S51
13. Howard TD, Koppelman GH, Xu J, et al. Gene-gene interaction in asthma: IL4RA and IL13 in a Dutch population with asthma. Am J Hum Genet 2002;70:230-236
14. Hakonarson H, Wjst M. Current concepts on the genetics of asthma. Curr Opin Pediatr 2001;13:267-277
15. Floros J, Fan R. Surfactant protein A and B genetic variants and respiratory distress syndrome: allele interactions. Biol Neonate 2001;80(suppl 1):S22-S25
16. Floros J, Fan R, DiAngelo S, et al. Surfactant protein (SP) B associations and interactions with SP-A in white and black subjects with respiratory distress syndrome. Pediatr Int 2001;43:567-576
17. Saltini C, Amicosante M, Franchi A, et al. Immunogenetic basis of environmental lung disease: lessons from the berylliosis model. Eur Respir J 1998;12:1463-1475
18. Cookson W. The alliance of genes and environment in asthma and allergy. Nature 1999;402(suppl 6760):B5-11
19. Walter R, Gottlieb DJ, O'Connor GT. Environmental and genetic risk factors and gene-environment interactions in the pathogenesis of chronic obstructive lung disease. Environ Health Perspect 2000;108(suppl 4):733-742
20. Lympany PA, du Bois RM. Diffuse lung disease: product of genetic susceptibility and environmental encounters. Thorax 1997;52:92-94
21. Phillips PC. The language of gene interaction. Genetics 1998;149:1167-1171
22. Fijneman RJ, de Vries SS, Jansen RC, Demant P. Complex interactions of new quantitative trait loci, Sluc1, Sluc2, Sluc3, and Sluc4, that influence the susceptibility to lung cancer in the mouse. Nat Genet 1996;14:465-467
23. van Wezel T, Stassen AP, Moen CJ, et al. Gene interaction and single gene effects in colon tumour susceptibility in mice. Nat Genet 1996;14:468-470
24. Ghosh S, Collins FS. The geneticist's approach to complex disease. Annu Rev Med 1996;47:333-353
25. Risch NJ. Searching for genetic determinants in the new millennium. Nature 2000;405:847-856
26. Guo SW, Lange K. Genetic mapping of complex traits: promises, problems, and prospects. Theor Popul Biol 2000;57:1-11
27. Martinez FD. Complexities of the genetics of asthma. Am J Respir Crit Care Med 1997;156(4 pt 2):S117-S122
28. Schork NJ. Genetics of complex disease: approaches, problems, and solutions. Am J Respir Crit Care Med 1997;156(4 pt 2):S103-S109
29. Spielman RS, McGinnis RE, Ewens WJ. Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM). Am J Hum Genet 1993;52:506-516
30. Schulze TG, McMahon FJ. Genetic association mapping at the crossroads: which test and why? Overview and practical guidelines. Am J Med Genet 2002;114:1-11
31. Sham PC, Curtis D. An extended transmission/disequilibrium test (TDT) for multi-allele marker loci. Ann Hum Genet 1995;59:323-336
32. Fan R, Floros J, Xiong M. Transmission disequilibrium test of two unlinked disease loci: application to respiratory distress syndrome. Advances and Application in Statistics 2002;1:277-308
33. Spielman RS, Ewens WJ. The TDT and other family-based tests for linkage disequilibrium and association. Am J Hum Genet 1996;59:983-989
34. Risch N, Merikangas K. The future of genetic studies of complex human diseases. Science 1996;273:1516-1517
35. Fan R, Floros J, Xiong M. Models and tests of linkage and association studies of QTL for multi-allele marker loci. Human Heredity 2002;53:130-145
36. Nakos G, Kitsiouli EI, Tsangaris I, Lekka ME. Bronchoalveolar lavage fluid characteristics of early intermediate and late phases of ARDS: alterations in leukocytes, proteins, PAF and surfactant components. Intensive Care Med 1998;24:296-303
37. Iannuzzi MC, Maliarik M, Rybicki B. Genetic polymorphisms in lung disease: bandwagon or breakthrough? Respir Res 2002;3:15-22
38. Floros J, Phelps DS. Pulmonary surfactant. In: Yaksh TL, Lynch C III, Zapol WM, Maze M, Biebuck J, Saidman LJ, eds. Anesthesia: Biologic Foundations. Philadelphia, PA: Lippincott-Raven; 1997:1259-1279
39. Phelps DS. Surfactant regulation of host defense function in the lung: a question of balance. Pediatr Pathol Mol Med 2001;20:269-292
40. Gregory TJ, Longmore WJ, Moxley MA, et al. Surfactant chemical composition and biophysical activity in acute respiratory distress syndrome. J Clin Invest 1991;88:1976-1981
41. Gunther A, Siebert C, Schmidt R, et al. Surfactant alterations in severe pneumonia, acute respiratory distress syndrome, and cardiogenic lung edema. Am J Respir Crit Care Med 1996;153:176-184
42. Pison U, Seeger W, Buchhorn R, et al. Surfactant abnormalities in patients with respiratory failure after multiple trauma. Am Rev Respir Dis 1989;140:1033-1039
43. Greene KE, Wright JR, Steinberg KP, et al. Serial changes in surfactant-associated proteins in lung and serum before and after onset of ARDS. Am J Respir Crit Care Med 1999;160:1843-1850
44. Gunther A, Schmidt R, Feustel A, et al. Surfactant subtype conversion is related to loss of surfactant apoprotein B and surface activity in large surfactant aggregates: experimental and clinical studies. Am J Respir Crit Care Med 1999;159:244-251
45. Doyle IR, Bersten AD, Nicholas TE, Surfactant proteins-A and -B are elevated in plasma of patients with acute respiratory failure. Am J Respir Crit Care Med 1997;156(4 pt 1):1217-1229
46. Bersten AD, Hunt T, Nicholas TE, Doyle IR. Elevated plasma surfactant protein-B predicts development of acute respiratory distress syndrome in patients with acute respiratory failure. Am J Respir Crit Care Med 2001;164:648-652
47. Gunther A, Ruppert C, Schmidt R, et al. Surfactant alteration and replacement in acute respiratory distress syndrome. Respir Res 2001;2:353-364
48. Pison U, Obertacke U, Seeger W, Hawgood S. Surfactant protein A (SP-A) is decreased in acute parenchymal lung injury associated with polytrauma. Eur J Clin Invest 1992;22:712-718
49. Greene KE, Ye S, Mason RJ, Parsons PE. Serum surfactant protein-A levels predict development of ARDS in at-risk patients. Chest 1999;116(suppl 1):S90-S91
50. Gregory TJ, Steinberg KP, Spragg R, et al. Bovine surfactant therapy for patients with acute respiratory distress syndrome. Am J Respir Crit Care Med 1997;155:1309-1315
51. Walmrath D, Gunther A, Ghofrani HA, et al. Bronchoscopic surfactant administration in patients with severe adult respiratory distress syndrome and sepsis. Am J Respir Crit Care Med 1996;154:57-62
52. Anzueto A, Baughman RP, Guntupalli KK, et al. Aerosolized surfactant in adults with sepsis-induced acute respiratory distress syndrome. Exosurf Acute Respiratory Distress Syndrome Sepsis Study Group. N Engl J Med 1996;334:1417-1421
53. Lin Z, deMello DE, Wallot M, Floros J. An SP-B gene mutation responsible for SP-B deficiency in fatal congenital alveolar proteinosis: evidence for a mutation hotspot in exon 4. Mol Genet Metab 1998;64:25-35
54. Clark JC, Weaver TE, Iwamoto HS, et al. Decreased lung compliance and air trapping in heterozygous SP-B-deficient mice. Am J Respir Cell Mol Biol 1997;16:46-52
55. Clark JC, Wert SE, Bachurski CJ, et al. Targeted disruption of the surfactant protein B gene disrupts surfactant homeostasis, causing respiratory failure in newborn mice. Proc Natl Acad Sci USA 1995;92:7794-7798
56. Ingenito EP, Mora R, Cullivan M, et al. Decreased surfactant protein-B expression and surfactant dysfunction in a murine model of acute lung injury. Am J Respir Cell Mol Biol 2001;25:35-44
57. Lewis JF, Veldhuizen R, Possmayer F, et al. Altered alveolar surfactant is an early marker of acute lung injury in septic adult sheep. Am J Respir Crit Care Med 1994;150:123-130
58. Hoover RR, Floros J. Organization of the human SP-A and SP-D loci at 10q22-q23: physical and radiation hybrid mapping reveal gene order and orientation. Am J Respir Cell Mol Biol 1998;18:353-362
59. Floros J, DiAngelo S, Koptides M, et al. Human SP-A locus: allele frequencies and linkage disequilibrium between the two surfactant protein A genes. Am J Respir Cell Mol Biol 1996;15:489-498
60. DiAngelo S, Lin Z, Wang G, et al. Novel, nonradioactive, simple and multiplex PCR-cRFLP methods for genotyping human SP-A and SP-D marker alleles. Dis Markers 1999;15:269-281
61. Floros J, Wang G. A point of view: quantitative and qualitative imbalance in disease pathogenesis; pulmonary surfactant protein A genetic variants as a model. Comp Biochem Physiol A Mol Integr Physiol 2001;129:295-303
62. Floros J, Hoover RR. Genetics of the hydrophilic surfactant proteins A and D. Biochim Biophys Acta 1998;1408:312-322
63. Karinch AM, Deiter G, Ballard PL, Floros J. Regulation of expression of human SP-A1 and SP-A2 genes in fetal lung explant culture. Biochim Biophys Acta 1998;1398:192-202
64. Hoover RR, Floros J. SP-A 3'-UTR is involved in the glucocorticoid inhibition of human SP-A gene expression. Am J Physiol 1999;276(6 pt 1):L917-924
65. Wang G, Phelps DS, Umstead TM, Floros J. Human SP-A protein variants derived from one or both genes stimulate TNF-alpha production in the THP-1 cell line. Am J Physiol Lung Cell Mol Physiol 2000;278:L946-954
66. Wang G, Umstead TM, Phelps DS, et al. The effect of ozone exposure on the ability of human surfactant protein a variants to stimulate cytokine production. Environ Health Perspect 2002;110:79-84
67. Zhu S, Ware LB, Geiser T, et al. Increased levels of nitrate and surfactant protein A nitration in the pulmonary edema fluid of patients with acute lung injury. Am J Respir Crit Care Med 2001;163:166-172
68. Schochett P, Mora R, Mark L, et al. Calcium-dependent degradation of surfactant protein A by activated neutrophils due to serine proteases. Exp Lung Res 1999;25:595-616
69. Puligandla PS, Gill T, McCaig LA, et al. Alveolar environment influences the metabolic and biophysical properties of exogenous surfactants. J Appl Physiol 2000;88:1061-1071
70. Baker CS, Evans TW, Randle BJ, Haslam PL. Damage to surfactant-specific protein in acute respiratory distress syndrome. Lancet 1999;353:1232-1237
71. Lin Z, Pearson C, Chinchilli V, et al. Polymorphisms of human SP-A, SP-B, and SP-D genes: association of SP-B Thr131Ile with ARDS. Clin Genet 2000;58:181-191
72. Korimilli A, Gonzales LW, Guttentag SH. Intracellular localization of processing events in human surfactant protein B biosynthesis. J Biol Chem 2000;275:8672-8679
73. Hawgood S, Latham D, Borchelt J, et al. Cell-specific post-translational processing of the surfactant-associated protein SP-B. Am J Physiol 1993;264(3 pt 1):L290-299
74. Weaver TE. Synthesis, processing and secretion of surfactant proteins B and C. Biochim Biophys Acta 1998;1408:173-179
75. Wikenheiser KA, Wert SE, Wispe JR, et al. Distinct effects of oxygen on surfactant protein B expression in bronchiolar and alveolar epithelium. Am J Physiol 1992;262(1 pt 1):L32-39
76. Wang G, Christensen ND, Wigdahl B, Guttentag SH, Floros J. Differences in N-linked glycosylation between human surfactant protein-B variants of the C or T allele at the single-nucleotide polymorphism at position 1580: implications for disease. Biochem J 2003;369:179-184
77. Roberts SJ, Petropavlovskaja M, Chung KN, et al. Role of individual N-linked glycosylation sites in the function and intracellular transport of the human alpha folate receptor. Arch Biochem Biophys 1998;351:227-235
78. Helenius A. How N-linked oligosaccharides affect glycoprotein folding in the endoplasmic reticulum. Mol Biol Cell 1994;5:253-265
79. McFarlane I, Georgopoulou N, Coughlan CM, et al. The role of the protein glycosylation state in the control of cellular transport of the amyloid beta precursor protein. Neuroscience 1999;90:15-25
80. Chui D, Sellakumar G, Green R, et al. Genetic remodeling of protein glycosylation in vivo induces autoimmune disease. Proc Natl Acad Sci USA 2001;98:1142-1147
81. Scanlin TF, Glick MC. Glycosylation and the cystic fibrosis transmembrane conductance regulator. Respir Res 2001;2:276-279
82. Nihlen U, Montnemery P, Lindholm LH, Lofdahl CG. Increased serum levels of carbohydrate-deficient transferrin in patients with chronic obstructive pulmonary disease. Scand J Clin Lab Invest 2001;61:341-347
83. Van Rozendaal BA, van Golde LM, Haagsman HP. Localization and functions of SP-A and SP-D at mucosal surfaces. Pediatr Pathol Mol Med 2001;20:319-339
84. Hartshorn KL, Crouch E, White MR, et al. Pulmonary surfactant proteins A and D enhance neutrophil uptake of bacteria. Am J Physiol 1998;274(6 pt 1):L958-969
85. Schagat TL, Wofford JA, Wright JR. Surfactant protein A enhances alveolar macrophage phagocytosis of apoptotic neutrophils. J Immunol 2001;166:2727-2733
86. Bersten AD, Davidson K, Nicholas TE, Doyle IR. Respiratory mechanics and surfactant in the acute respiratory distress syndrome. Clin Exp Pharmacol Physiol 1998;25:955-963
87. Floros J, Lin Z. Genetic variability of surfactant protein-B and respiratory distress syndrome: clinical implication: Medscape Respiratory Care 1999. Available at: http://www.respiratory care.medscape.com/Meds...3.n02/mrc-4664.flor/pntmrc4664.flor.html