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Semin Respir Crit Care Med 2003; 24(2): 161-168
DOI: 10.1055/s-2003-39015
DOI: 10.1055/s-2003-39015
Genetics of Acute Respiratory Distress Syndrome: Challenges, Approaches, Surfactant Proteins as Candidate Genes
Weitere Informationen
Publikationsverlauf
Publikationsdatum:
07. Mai 2003 (online)
ABSTRACT
There are challenges "inherent" in studying the genetics of a complex disease, such as acute respiratory distress syndrome (ARDS). It is necessary to define each ARDS subgroup using considerably narrower definitions that better reflect the particular subgroup. ARDS consists of several phenotypic subgroups, and findings from one subgroup may not be applicable to another. By extension, different treatment therapies may be appropriate for each phenotypic subgroup. This article presents the findings of a small pilot case-control association study where the surfactant proteins were used as candidate genes in the study of ARDS. This article discusses the relevance of surfactant protein genes in ARDS as well as the significance of genetic variants associated with ARDS subgroups.
KEYWORDS
Surfactant protein B (SP-B) - SP-A - transmission disequilibrium test (TDT) - case-control study - genetic variants - multigenic
REFERENCES
- 1 Ashbaugh D G, Bigelow D B, Petty T L, Levine B E. Acute respiratory distress in adults. Lancet . 1967; 2 319-323
- 2 Murray J F, Matthay M A, Luce J M, Flick M R. An expanded definition of the adult respiratory distress syndrome. Am Rev Respir Dis . 1988; 138 720-723
- 3 Bernard G R, Artigas A, Brigham K L. 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 L B, Matthay M A. 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 P M. 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 L R, 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 R G, Ware L B, Berthiaume Y, Matthay M A. Treatment of ARDS. Chest . 2001; 120 1347-1367
- 9 Sporik R, Platts-Mills T A. 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 J V. Remodeling of the airway epithelium in asthma. Am J Respir Crit Care Med . 2001; 164(10 pt 2) S46-S51
- 13 Howard T D, Koppelman G H, 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(suppl 1); 80 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 4) 733-742
- 19 Walter R, Gottlieb D J, O'Connor G T. 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 P A, du Bois M R. Diffuse lung disease: product of genetic susceptibility and environmental encounters. Thorax . 1997; 52 92-94
- 21 Phillips P C. The language of gene interaction. Genetics . 1998; 149 1167-1171
- 22 Fijneman R J, de Vries S S, Jansen R C, 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 A P, Moen C J. et al . Gene interaction and single gene effects in colon tumour susceptibility in mice. Nat Genet . 1996; 14 468-470
- 24 Ghosh S, Collins F S. The geneticist's approach to complex disease. Annu Rev Med . 1996; 47 333-353
- 25 Risch N J. Searching for genetic determinants in the new millennium. Nature . 2000; 405 847-856
- 26 Guo S W, Lange K. Genetic mapping of complex traits: promises, problems, and prospects. Theor Popul Biol . 2000; 57 1-11
- 27 Martinez F D. Complexities of the genetics of asthma. Am J Respir Crit Care Med . 1997; 156(4 pt 2) S117-S122
- 28 Schork N J. Genetics of complex disease: approaches, problems, and solutions. Am J Respir Crit Care Med . 1997; 156(4 pt 2) S103-S109
- 29 Spielman R S, McGinnis R E, Ewens W J. 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 T G, McMahon F J. Genetic association mapping at the crossroads: which test and why?. Overview and practical guidelines. Am J Med Genet . 2002; 114 1-11
- 31 Sham P C, 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 R S, Ewens W J. 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 E I, Tsangaris I, Lekka M E. 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 M C, Maliarik M, Rybicki B. Genetic polymorphisms in lung disease: bandwagon or breakthrough?. Respir Res . 2002; 3 15-22
- 38 Floros J, Phelps D S. 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
MissingFormLabel
- 39 Phelps D S. Surfactant regulation of host defense function in the lung: a question of balance. Pediatr Pathol Mol Med . 2001; 20 269-292
- 40 Gregory T J, Longmore W J, Moxley M A. 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 K E, Wright J R, Steinberg K P. 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 I R, Bersten A D, Nicholas T E. 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 A D, Hunt T, Nicholas T E, Doyle I R. 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 K E, Ye S, Mason R J, Parsons P E. Serum surfactant protein-A levels predict development of ARDS in at-risk patients. Chest . 1999; 116 S90-S91
- 50 Gregory T J, Steinberg K P, 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 H A. 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 R P, Guntupalli K K. 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 D E, 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 J C, Weaver T E, Iwamoto H S. 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 J C, Wert S E, Bachurski C J. 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 E P, 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 J F, 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 R R, 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 R R. Genetics of the hydrophilic surfactant proteins A and D. Biochim Biophys Acta . 1998; 1408 312-322
- 63 Karinch A M, Deiter G, Ballard P L, 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 R R, 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 D S, Umstead T M, 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 T M, Phelps D S. 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 L B, 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 P S, Gill T, McCaig L A. et al . Alveolar environment influences the metabolic and biophysical properties of exogenous surfactants. J Appl Physiol . 2000; 88 1061-1071
- 70 Baker C S, Evans T W, Randle B J, Haslam P L. 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 L W, Guttentag S H. 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 posttranslational processing of the surfactant-associated protein SP-B. Am J Physiol . 1993; 264(3 pt 1) L290-299
- 74 Weaver T E. Synthesis, processing and secretion of surfactant proteins B and C. Biochim Biophys Acta . 1998; 1408 173-179
- 75 Wikenheiser K A, Wert S E, Wispe J R. 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 N D, Wigdahl B, Guttentag S H, 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 S J, Petropavlovskaja M, Chung K N. 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 C M. 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 T F, Glick M C. Glycosylation and the cystic fibrosis transmembrane conductance regulator. Respir Res . 2001; 2 276-279
- 82 Nihlen U, Montnemery P, Lindholm L H, Lofdahl C G. 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 A B, van Golde M L, Haagsman H P. Localization and functions of SP-A and SP-D at mucosal surfaces. Pediatr Pathol Mol Med . 2001; 20 319-339
- 84 Hartshorn K L, Crouch E, White M R. 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 T L, Wofford J A, Wright J R. Surfactant protein A enhances alveolar macrophage phagocytosis of apoptotic neutrophils. J Immunol . 2001; 166 2727-2733
- 86 Bersten A D, Davidson K, Nicholas T E, Doyle I R. 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/pnt-
mrc4664.flor.html
MissingFormLabel