Genetic predisposition for development of complications in multiple trauma patients

Shock

Volumn 35, Issue 5, 2011, Pages 440-448

  Hildebrand, Frank ^a   Mommsen, Philipp ^a   Frink, Michael ^a   Van Griensven, Martijn ^b   Krettek, Christian ^a  

^a HANNOVER MEDICAL SCHOOL   (Germany)

^b LUDWIG BOLTZMANN INSTITUTE FOR EXPERIMENTAL AND CLINICAL TRAUMATOLOGY   (Austria)

Author keywords

inflammatory mediators; innate immune system; multiple trauma; posttraumatic complications; Single nucleotide polymorphism

Indexed keywords

ANGIOPOIETIN 2; CD14 ANTIGEN; HEAT SHOCK PROTEIN 70; LIPOPOLYSACCHARIDE BINDING PROTEIN; MANNOSE BINDING LECTIN; MYOSIN LIGHT CHAIN KINASE; PROCALCITONIN; TOLL LIKE RECEPTOR 2; TOLL LIKE RECEPTOR 4;

ADJUVANT THERAPY; GENETIC PREDISPOSITION; GENETIC VARIABILITY; GENOTYPE; HUMAN; INNATE IMMUNITY; MITOCHONDRIAL GENOME; MULTIPLE TRAUMA; REVIEW; SEPSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SYSTEMIC INFLAMMATORY RESPONSE SYNDROME;

GENETIC PREDISPOSITION TO DISEASE; HUMANS; IMMUNITY, INNATE; MULTIPLE TRAUMA; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 79955536237     PISSN: 10732322     EISSN: 15400514     Source Type: Journal    
DOI: 10.1097/SHK.0b013e31820e2152     Document Type: Review

References (64)

1. Imahara SD, O'Keefe GE: Genetic determinants of the inflammatory response. Curr Opin Crit Care 10(5):318-324, 2004. (Pubitemid 39313498)
2. Brookes AJ: The essence of SNPs. Gene 234(2):177-186, 1999. (Pubitemid 29298180)
3. Wjst M: Target SNP selection in complex disease association studies. BMC Bioinformatics 5:92, 2004.
4. Cobb JP, O'Keefe GE: Injury research in the genomic era. Lancet 363(9426): 2076-2083, 2004. (Pubitemid 38781112)
5. Flores C, Perez-Mendez L, Maca-Meyer N, Muriel A, Espinosa E, Blanco J, Sanguesa R, Muros M, Garcia JG, Villar J: A common haplotype of the LBP gene predisposes to severe sepsis. Crit Care Med 37(10):2759-2766, 2009.
6. Chien JW, Boeckh MJ, Hansen JA, Clark JG: Lipopolysaccharide binding protein promoter variants influence the risk for gram-negative bacteremia and mortality after allogeneic hematopoietic cell transplantation. Blood 111(4): 2462-2469, 2008. (Pubitemid 351451461)
7. Barber RC, O'Keefe GE: Characterization of a single nucleotide polymorphism in the lipopolysaccharide binding protein and its association with sepsis. Am J Respir Crit Care Med 167(10):1316-1320, 2003. (Pubitemid 36609713)
8. Hubacek JA, Stuber F, Frohlich D, Book M, Wetegrove S, Ritter M, Rothe G, Schmitz G: Gene variants of the bactericidal/permeability increasing protein and lipopolysaccharide binding protein in sepsis patients: gender-specific genetic predisposition to sepsis. Crit Care Med 29(3):557-561, 2001. (Pubitemid 32225297)
9. Gu W, Dong H, Jiang DP, Zhou J, Du DY, Gao JM, Yao YZ, Zhang LY, Wen AQ, Liu Q, et al.: Functional significance of CD14 promoter polymorphisms and their clinical relevance in a Chinese Han population. Crit Care Med 36(8):2274-2280, 2008.
10. Heesen M, Blomeke B, Schluter B, Heussen N, Rossaint R, Kunz D: Lack of association between the -260 CY9T promoter polymorphism of the endotoxin receptor CD14 gene and the CD14 density of unstimulated human monocytes and soluble CD14 plasma levels. Intensive Care Med 27(11): 1770-1775, 2001. (Pubitemid 33139839)
11. Heesen M, Bloemeke B, Schade U, Obertacke U, Majetschak M: The -260 CY9T promoter polymorphism of the lipopolysaccharide receptor CD14 and severe sepsis in trauma patients. Intensive Care Med 28(8):1161-1163, 2002. (Pubitemid 34985244)
12. Baier RJ, Loggins J, Yanamandra K: IL-10, IL-6 and CD14 polymorphisms and sepsis outcome in ventilated very low birth weight infants. BMC Med 4:10, 2006.
13. Baldini M, Lohman IC, Halonen M, Erickson RP, Holt PG, Martinez FD: A polymorphism* in the 5¶ flanking region of the CD14 gene is associated with circulating soluble CD14 levels and with total serum immunoglobulin E. Am J Respir Cell Mol Biol 20(5):976-983, 1999. (Pubitemid 129540855)
14. 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(5):969-973, 2002. (Pubitemid 34508015)
15. Barber RC, Chang LY, Arnoldo BD, Purdue GF, Hunt JL, Horton JW, Aragaki CC: Innate immunity SNPs are associated with risk for severe sepsis after burn injury. Clin Med Res 4(4):250-255, 2006. (Pubitemid 46166376)
16. Sutherland AM, Walley KR, Russell JA: Polymorphisms in CD14, mannosebinding lectin, and Toll-like receptor-2 are associated with increased prevalence of infection in critically ill adults. Crit Care Med 33(3):638-644, 2005. (Pubitemid 40365568)
17. Barber RC, Aragaki CC, Chang LY, Purdue GF, Hunt JL, Arnoldo BD, Horton JW: CD14-159 C allele is associated with increased risk of mortality after burn injury. Shock 27(3):232-237, 2007.
18. Chen KH, Gu W, Zeng L, Jiang DP, Zhang LY, Zhou J, Du DY, Hu P, Liu Q, Huang SN, et al.: Identification of haplotype tag Snps within the entire TLR2 gene and their clinical relevance in patients with major trauma. Shock 35: 35-41, 2011.
19. Kang TJ, Chae GT: Detection of Toll-like receptor 2 (TLR2) mutation in the lepromatous leprosy patients. FEMS Immunol Med Microbiol 31(1):53-58, 2001.
20. Thuong NT, Hawn TR, Thwaites GE, Chau TT, Lan NT, Quy HT, Hieu NT, Aderem A, Hien TT, Farrar JJ, et al.: A polymorphism in human TLR2 is associated with increased susceptibility to tuberculous meningitis. Genes Immun 8(5):422-428, 2007. (Pubitemid 47163105)
21. Lorenz E, Mira JP, Cornish KL, Arbour NC, Schwartz DA: A novel polymorphism in the Toll-like receptor 2 gene and its potential association with staphylococcal infection. Infect Immun 68(11):6398-6401, 2000.
22. McDaniel DO, Hamilton J, Brock M, May W, Calcote L, Tee LY, Vick L, Newman DB, Vick K, Harrison S, et al.: Molecular analysis of inflammatory markers in trauma patients at risk of postinjury complications. J Trauma 63(1):147-157; discussion 157-158, 2007.
23. Moore CE, Segal S, Berendt AR, Hill AV, Day NP: Lack of association between Toll-like receptor 2 polymorphisms and susceptibility to severe disease caused by Staphylococcus aureus. Clin Diagn Lab Immunol 11(6): 1194-1197, 2004. (Pubitemid 39540867)
24. Chen K, Wang YT, Gu W, Zeng L, Jiang DP, Du DY, Hu P, Duan ZX, Liu Q, Huang SN, et al.: Functional significance of the Toll-like receptor 4 promoter gene polymorphisms in the Chinese Han population. Crit Care Med 38(5): 1292-1299, 2010.
25. Arbour NC, Lorenz E, Schutte BC, Zabner J, Kline JN, Jones M, Frees K, Watt JL, Schwartz DA: TLR4 mutations are associated with endotoxin hyporesponsiveness in humans. Nat Genet 25(2):187-191, 2000. (Pubitemid 30394990)
26. 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(10):1522-1525, 2002. (Pubitemid 35286126)
27. 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(9):1028-1032, 2002. (Pubitemid 34492532)
28. Duan ZX, Zhu PF, Dong H, Gu W, Yang C, Liu Q, Wang ZG, Jiang JX: Functional significance of the TLR4/11367 polymorphism identified in Chinese Han population. Shock 28(2):160-164, 2007. (Pubitemid 47220826)
29. Sutherland AM, Walley KR: Bench-to-bedside review: association of genetic variation with sepsis. Crit Care 13(2):210, 2009.
30. Hibberd ML, Sumiya M, Summerfield JA, Booy R, Levin M: Association of variants of the gene for mannose-binding lectin with susceptibility to meningococcal disease. Meningococcal Research Group. Lancet 353(9158): 1049-1053, 1999. (Pubitemid 29149913)
31. Koch A, Melbye M, Sorensen P, Homoe P, Madsen HO, Molbak K, Hansen CH, Andersen LH, Hahn GW, Garred P: Acute respiratory tract infections and mannose-binding lectin insufficiency during early childhood. JAMA 285(10):1316-1321, 2001. (Pubitemid 32216146)
32. Arcaroli J, Fessler MB, Abraham E: Genetic polymorphisms and sepsis. Shock 24(4):300-312, 2005. (Pubitemid 41416514)
33. Schröder O, Schulte KM, Ostermann P, Roher HD, Ekkernkamp A, Laun RA: Heat shock protein 70 genotypes HSPA1B and HSPA1L influence cytokine concentrations and interfere with outcome after major injury. Crit Care Med 31(1):73-79, 2003. (Pubitemid 36151152)
34. Schroeder S, Reck M, Hoeft A, Stuber F: Analysis of two human leukocyte antigen-linked polymorphic heat shock protein 70 genes in patients with severe sepsis. Crit Care Med 27(7):1265-1270, 1999. (Pubitemid 29379362)
35. Bowers DJ, Calvano JE, Alvarez SM, Coyle SM, Macor MA, Kumar A, Calvano SE, Lowry SF: Polymorphisms of heat shock protein-70 (HSPA1B and HSPA1L loci) do not influence infection or outcome risk in critically ill surgical patients. Shock 25(2):117-122, 2006.
36. Temple SE, Cheong KY, Ardlie KG, Sayer D, Waterer GW: The septic shock associated HSPA1B1267 polymorphism influences production of HSPA1A and HSPA1B. Intensive Care Med 30(9):1761-1767, 2004. (Pubitemid 39297180)
37. Hildebrand F, Kalmbach M, Kaapke A, Krettek C, Stuhrmann M: No association between CALCA polymorphisms and clinical outcome or serum procalcitonin levels in German polytrauma patients. Cytokine 47(1):30-36, 2009.
38. Su L, Zhai R, Sheu CC, Gallagher DC, Gong MN, Tejera P, Thompson BT, Christiani DC: Genetic variants in the angiopoietin-2 gene are associated with increased risk of ARDS. Intensive Care Med 35(6):1024-1030, 2009.
39. 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(10):2794-2800, 2008.
40. Gomez R, O'Keeffe T, Chang LY, Huebinger RM, Minei JP, Barber RC: Association of mitochondrial allele 4216C with increased risk for complicated sepsis and death after traumatic injury. J Trauma 66(3):850-857; discussion 857-858, 2009.
41. Canter JA, Norris PR, Moore JH, Jenkins JM, Morris JA: Specific polymorphic variation in the mitochondrial genome and increased in-hospital mortality after severe trauma. Ann Surg 246(3):406-411; discussion 411-414, 2007. (Pubitemid 47312128)
42. Huebinger RM, Gomez R, McGee D, Chang LY, Bender JE, O'Keeffe T, Burris AM, Friese SM, Purdue GF, Hunt JL, et al.: Association of mitochondrial allele 4216C with increased risk for sepsis-related organ dysfunction and shock after burn injury. Shock 33(1):19-23, 2010.
43. Sutherland AM, Walley KR, Manocha S, Russell JA: The association of interleukin 6 haplotype clades with mortality in critically ill adults. Arch Intern Med 165(1):75-82, 2005. (Pubitemid 40096085)
44. Gupta D, Kirkland TN, Viriyakosol S, Dziarski R: CD14 is a cell-activating receptor for bacterial peptidoglycan. J Biol Chem 271(38):23310-23316, 1996. (Pubitemid 26314774)
45. Landmann R, Reber AM, Sansano S, Zimmerli W: Function of soluble CD14 in serum from patients with septic shock. J Infect Dis 173(3):661-668, 1996. (Pubitemid 26064068)
46. Landmann R, Zimmerli W, Sansano S, Link S, Hahn A, Glauser MP, Calandra T: Increased circulating soluble CD14 is associated with high mortality in gram-negative septic shock. J Infect Dis 171(3):639-644, 1995.
47. Hubacek JA, Stuber F, Frohlich D, Book M, Wetegrove S, Rothe G, Schmitz G: The common functional C(-159)T polymorphism within the promoter region of the lipopolysaccharide receptor CD14 is not associated with sepsis development or mortality. Genes Immun 1(6):405-407, 2000.
48. Michalek SM, Moore RN, McGhee JR, Rosenstreich DL, Mergenhagen SE: The primary role of lymphoreticular cells in the mediation of host responses to bacterial endotoxin. J Infect Dis 141(1):55-63, 1980. (Pubitemid 10133834)
49. Sultzer BM: Genetic control of leucocyte responses to endotoxin. Nature 219(5160):1253-1254, 1968.
50. Schurr JR, Young E, Byrne P, Steele C, Shellito JE, Kolls JK: Central role of Toll-like receptor 4 signaling and host defense in experimental pneumonia caused by gram-negative bacteria. Infect Immun 73(1):532-545, 2005. (Pubitemid 40041148)
51. Shalhub S, Junker CE, Imahara SD, Mindrinos MN, Dissanaike S, O'Keefe GE: Variation in the TLR4 gene influences the risk of organ failure and shock posttrauma: a cohort study. J Trauma 66(1):115-122; discussion 122-123, 2009.
52. Feterowski C, Emmanuilidis K, Miethke T, Gerauer K, Rump M, Ulm K, Holzmann B, Weighardt H: Effects of functional Toll-like receptor-4 mutations on the immune response to human and experimental sepsis. Immunology 109(3):426-431, 2003. (Pubitemid 36783269)
53. Rector A, Lemey P, Laffut W, Keyaerts E, Struyf F, Wollants E, Vermeire S, Rutgeerts P, Van Ranst M: Mannan-binding lectin (MBL) gene polymorphisms in ulcerative colitis and Crohn's disease. Genes Immun 2(6):323-328, 2001. (Pubitemid 33674244)
54. Steffensen R, Thiel S, Varming K, Jersild C, Jensenius JC: Detection of structural gene mutations and promoter polymorphisms in the mannan-binding lectin (MBL) gene by polymerase chain reaction with sequence-specific primers. J Immunol Methods 241(1-2):33-42, 2000. (Pubitemid 30468508)
55. Suto R, Srivastava PK: A mechanism for the specific immunogenicity of heat shock protein-chaperoned peptides. Science 269(5230):1585-1588, 1995.
56. Kee C, Cheong KY, Pham K, Waterer GW, Temple SE: Genetic variation in heat shock protein 70 is associated with septic shock: narrowing the association to a specific haplotype. Int J Immunogenet 35(6):465-473, 2008.
57. Muller B, Becker KL: Procalcitonin: how a hormone became a marker and mediator of sepsis. Swiss Med Wkly 131(41-42):595-602, 2001. (Pubitemid 34044981)
58. Goodman MT, Ferrell R, McDuffie K, Thompson PJ, Wilkens LR, Bushley AW, Tung KH, Carney ME, Ness RB: Calcitonin gene polymorphism CALCA-624 (T/C) and ovarian cancer. Environ Mol Mutagen 46(1):53-58, 2005. (Pubitemid 41099105)
59. Schinke T, Liese S, Priemel M, Haberland M, Schilling AF, Catala-Lehnen P, Blicharski D, Rueger JM, Gagel RF, Emeson RB, et al.: Decreased bone formation and osteopenia in mice lacking alpha-calcitonin gene-related peptide. J Bone Miner Res 19(12):2049-2056, 2004. (Pubitemid 41103420)
60. Becker KL, Snider R, Nylen ES: Procalcitonin assay in systemic inflammation, infection, and sepsis: clinical utility and limitations. Crit Care Med 36(3): 941-952, 2008.
61. Garcia JG, Davis HW, Patterson CE: Regulation of endothelial cell gap formation and barrier dysfunction: role of myosin light chain phosphorylation. J Cell Physiol 163(3):510-522, 1995.
62. Gao L, Grant A, Halder I, Brower R, Sevransky J, Maloney JP, Moss M, Shanholtz C, Yates CR, Meduri GU, et al.: Novel polymorphisms in the myosin light chain kinase gene confer risk for acute lung injury. Am J Respir Cell Mol Biol 34(4):487-495, 2006.
63. Clark MF, Baudouin SV: A systematic review of the quality of genetic association studies in human sepsis. Intensive Care Med 32(11):1706-1712, 2006. (Pubitemid 44607357)
64. Hirschhorn JN, Lohmueller K, Byrne E, Hirschhorn K: A comprehensive review of genetic association studies. Genet Med 4(2):45-61, 2002 (Pubitemid 44698579)