Identification of haplotype tag single nucleotide polymorphisms within the nuclear factor-ΚB family genes and their clinical relevance in patients with major trauma

Critical Care

Volumn 19, Issue 1, 2015, Pages

  Pan, Wei ^a   Zhang, An Qiang ^a   Gu, Wei ^a   Gao, Jun Wei ^a   Du, Ding Yuan ^b   Zhang, Lian Yang ^a   Zeng, Ling ^a   Du, Juan ^a   Wang, Hai Yan ^a   Jiang, Jian Xin ^a  

^a THIRD MILITARY MEDICAL UNIVERSITY   (China)

^b CHONGQING EMERGENCY MEDICAL CENTER   (China)

Author keywords

[No Author keywords available]

Indexed keywords

IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; LIPOPROTEIN; NUCLEAR FACTOR KAPPA B 1; NUCLEAR FACTOR KAPPA B 2; TRANSCRIPTION FACTOR REL; TRANSCRIPTION FACTOR RELA; TRANSCRIPTION FACTOR RELB; TUMOR NECROSIS FACTOR ALPHA; UNCLASSIFIED DRUG; TUMOR NECROSIS FACTOR;

ADULT; AGED; ALLELE; ARTICLE; BLUNT TRAUMA; COHORT ANALYSIS; CYTOKINE PRODUCTION; DISEASE COURSE; FEMALE; GENE FREQUENCY; HAPLOTYPE; HUMAN; INNATE IMMUNITY; LEUKOCYTE; MAJOR CLINICAL STUDY; MALE; MORBIDITY; MULTIGENE FAMILY; MULTIPLE ORGAN FAILURE; PRIORITY JOURNAL; PYROSEQUENCING; SEPSIS; SINGLE NUCLEOTIDE POLYMORPHISM; ADOLESCENT; ASIAN CONTINENTAL ANCESTRY GROUP; CHINA; GENETICS; GENOTYPE; METABOLISM; MIDDLE AGED; MONONUCLEAR CELL; PROSPECTIVE STUDY; WOUNDS, NONPENETRATING; YOUNG ADULT;

ADOLESCENT; ADULT; AGED; ALLELES; ASIAN CONTINENTAL ANCESTRY GROUP; CHINA; FEMALE; GENE FREQUENCY; GENOTYPE; HAPLOTYPES; HUMANS; LEUKOCYTES, MONONUCLEAR; MALE; MIDDLE AGED; MULTIPLE ORGAN FAILURE; NF-KAPPA B; POLYMORPHISM, SINGLE NUCLEOTIDE; PROSPECTIVE STUDIES; SEPSIS; TUMOR NECROSIS FACTOR-ALPHA; WOUNDS, NONPENETRATING; YOUNG ADULT;

EID: 84928011120     PISSN: 13648535     EISSN: 1466609X     Source Type: Journal    
DOI: 10.1186/s13054-015-0836-6     Document Type: Article

References (50)

1. Wang Z, Jiang J. An overview of research advances in road traffic trauma in China. Traffic Inj Prev. 2003;4:9-16.
2. Neunaber C, Zeckey C, Andruszkow H, Frink M, Mommsen P, Krettek C, et al. Immunomodulation in polytrauma and polymicrobial sepsis - where do we stand? Recent Pat Inflamm Allergy Drug Discov. 2011;5:17-25.
3. Gu W, Shan YA, Zhou J, Jiang DP, Zhang L, Du DY, et al. Functional significance of gene polymorphisms in the promoter of myeloid differentiation-2. Ann Surg. 2007;246:151-8.
4. Wen AQ, Wang J, Feng K, Zhu PF, Wang ZG, Jiang JX. Effects of haplotypes in the interleukin 1beta promoter on lipopolysaccharide-induced interleukin 1beta expression. Shock (Augusta, Ga). 2006;26:25-30.
5. Medzhitov R. Recognition of microorganisms and activation of the immune response. Nature. 2007;449:819-26.
6. Vallabhapurapu S, Karin M. Regulation and function of NF-kappaB transcription factors in the immune system. Annu Rev Immunol. 2009;27:693-733.
7. Oh H, Ghosh S. NF-kappaB: roles and regulation in different CD4(+) T-cell subsets. Immunol Rev. 2013;252:41-51.
8. Hayden MS, Ghosh S. Signaling to NF-kappaB. Genes Dev. 2004;18:2195-224.
9. Sun XF, Zhang H. NFKB and NFKBI polymorphisms in relation to susceptibility of tumour and other diseases. Histol Histopathol. 2007;22:1387-98.
10. Adamzik M, Schafer S, Frey UH, Becker A, Kreuzer M, Winning S, et al. The NFKB1 promoter polymorphism (-94ins/delATTG) alters nuclear translocation of NF-kappaB1 in monocytes after lipopolysaccharide stimulation and is associated with increased mortality in sepsis. Anesthesiology. 2013;118:123-33.
11. Schafer ST, Gessner S, Scherag A, Rump K, Frey UH, Siffert W, et al. Hydrocortisone Fails to Abolish NF-kappaB1 Protein Nuclear Translocation in Deletion Allele Carriers of the NFKB1 Promoter Polymorphism (-94ins/delATTG) and Is Associated with Increased 30-Day Mortality in Septic Shock. PLoS One. 2014;9:e104953.
12. Association for the Advancement of Automotive Medicine (AAAM). The Abbreviated Injury Scale. Barrington, IL: AAAM; 2005.
13. Marshall JC, Cook DJ, Christou NV, Bernard GR, Sprung CL, Sibbald WJ. Multiple organ dysfunction score: a reliable descriptor of a complex clinical outcome. Crit Care Med. 1995;23:1638-52.
14. The full sequence of the human NFKB1, NFKB2, RELA, RELB and REL genes. www.ncbi.nlm.nih.gov/genbank/.
15. Genetic variation data for the entire NFKB1, NFKB2, RELA, RELB and REL genes. www.hapmap.org.
16. Barrett JC, Fry B, Maller J, Daly MJ. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics (Oxford, England). 2005;21:263-5.
17. Gabriel SB, Schaffner SF, Nguyen H, Moore JM, Roy J, Blumenstiel B, et al. The structure of haplotype blocks in the human genome. Sci (New York, NY). 2002;296:2225-9.
18. Online software used to analyze the effect of SNPs on potential transcription factor binding sites. www.targetscan.org
19. Alderborn A, Kristofferson A, Hammerling U. Determination of single-nucleotide polymorphisms by real-time pyrophosphate DNA sequencing. Genome Res. 2000;10:1249-58.
20. Majetschak M, Borgermann J, Waydhas C, Obertacke U, Nast-Kolb D, Schade FU. Whole blood tumor necrosis factor-alpha production and its relation to systemic concentrations of interleukin 4, interleukin 10, and transforming growth factor-beta1 in multiply injured blunt trauma victims. Crit Care Med. 2000;28:1847-53.
21. Power and Sample Size Calculation. http://biostat.mc.vanderbilt.edu/wiki/Main/PowerSampleSize accessed Oct 17, 2014.
22. Karban AS, Okazaki T, Panhuysen CI, Gallegos T, Potter JJ, Bailey-Wilson JE, et al. Functional annotation of a novel NFKB1 promoter polymorphism that increases risk for ulcerative colitis. Hum Mol Genet. 2004;13:35-45.
23. Perera PY, Mayadas TN, Takeuchi O, Akira S, Zaks-Zilberman M, Goyert SM, et al. CD11b/CD18 acts in concert with CD14 and Toll-like receptor (TLR) 4 to elicit full lipopolysaccharide and taxol-inducible gene expression. J Immunol. 2001;166:574-81.
24. Cross JL, Kott K, Miletic T, Johnson P. CD45 regulates TLR-induced proinflammatory cytokine and IFN-beta secretion in dendritic cells. J Immunol. 2008;180:8020-9.
25. Sen R, Baltimore D. Multiple nuclear factors interact with the immunoglobulin enhancer sequences. Cell. 1986;46:705-16.
26. Bonizzi G, Karin M. The two NF-kappaB activation pathways and their role in innate and adaptive immunity. Trends Immunol. 2004;25:280-8.
27. Gerondakis S, Grossmann M, Nakamura Y, Pohl T, Grumont R. Genetic approaches in mice to understand Rel/NF-kappaB and IkappaB function: transgenics and knockouts. Oncogene. 1999;18:6888-95.
28. Barnes PJ, Karin M. Nuclear factor-kappaB: a pivotal transcription factor in chronic inflammatory diseases. N Engl J Med. 1997;336:1066-71.
29. Levi M, van der Poll T, ten Cate H. Tissue factor in infection and severe inflammation. Semin Thromb Hemost. 2006;32:33-9.
30. Levi M, Ten Cate H. Disseminated intravascular coagulation. N Engl J Med. 1999;341:586-92.
31. Bohrer H, Qiu F, Zimmermann T, Zhang Y, Jllmer T, Mannel D, et al. Role of NFkappaB in the mortality of sepsis. J Clin Invest. 1997;100:972-85.
32. Tucker E, O'Donnell K, Fuchsberger M, Hilton AA, Metcalf D, Greig K, et al. A novel mutation in the Nfkb2 gene generates an NF-kappa B2 "super repressor". J Immunol. 2007;179:7514-22.
33. Saito T, Sasaki CY, Rezanka LJ, Ghosh P, Longo DL. p52-Independent nuclear translocation of RelB promotes LPS-induced attachment. Biochem Biophys Res Commun. 2010;391:235-41.
34. Courtine E, Pene F, Cagnard N, Toubiana J, Fitting C, Brocheton J, et al. Critical role of cRel subunit of NF-kappaB in sepsis survival. Infect Immun. 2011;79:1848-54.
35. Mohd Suzairi MS, Tan SC, Ahmad Aizat AA, Mohd Aminudin M, Siti Nurfatimah MS, Andee ZD, et al. The functional -94 insertion/deletion ATTG polymorphism in the promoter region of NFKB1 gene increases the risk of sporadic colorectal cancer. Cancer Epidemiol. 2013;37:634-8.
36. Arisawa T, Tahara T, Shiroeda H, Yamada K, Nomura T, Yamada H, et al. Functional promoter polymorphisms of NFKB1 influence susceptibility to the diffuse type of gastric cancer. Oncol Rep. 2013;30:3013-9.
37. Cai H, Sun L, Cui L, Cao Q, Qin C, Zhang G, et al. A functional insertion/deletion polymorphism (-94 ins/del ATTG) in the promoter region of the NFKB1 gene is related to the risk of renal cell carcinoma. Urol Int. 2013;91:206-12.
38. Huo ZH, Zhong HJ, Zhu YS, Xing B, Tang H. Roles of functional NFKB1 and beta-TrCP insertion/deletion polymorphisms in mRNA expression and epithelial ovarian cancer susceptibility. Gen Mol Res. 2013;12:3435-43.
39. Li P, Gu J, Yang X, Cai H, Tao J, Yang X, et al. Functional promoter -94 ins/del ATTG polymorphism in NFKB1 gene is associated with bladder cancer risk in a Chinese population. PLoS One. 2013;8:e71604.
40. Bajwa EK, Cremer PC, Gong MN, Zhai R, Su L, Thompson BT, et al. An NFKB1 promoter insertion/deletion polymorphism influences risk and outcome in acute respiratory distress syndrome among Caucasians. PLoS One. 2011;6:e19469.
41. Schulz S, Hierse L, Altermann W, Klapproth J, Zimmermann U, Reichert Y, et al. The del/del genotype of the nuclear factor-kappaB -94ATTG polymorphism and its relation to aggressive periodontitis. J Periodontal Res. 2010;45:396-403.
42. Zou YF, Wang F, Feng XL, Tao JH, Zhu JM, Pan FM, et al. Association of NFKB1 -94ins/delATTG promoter polymorphism with susceptibility to autoimmune and inflammatory diseases: a meta-analysis. Tissue Antigens. 2011;77:9-17.
43. Liang M, Xu X, Gong Y, Tang Y, Lin L. Risk association between the NF-kappaB1 -94ins/delATTG promoter polymorphism and inflammatory bowel diseases: a meta-analysis. Dig Dis Sci. 2012;57:2304-9.
44. Trynka G, Zhernakova A, Romanos J, Franke L, Hunt KA, Turner G, et al. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. Gut. 2009;58:1078-83.
45. Amundsen SS, Viken MK, Sollid LM, Lie BA. Coeliac disease-associated polymorphisms influence thymic gene expression. Genes Immun. 2014;15:355-60.
46. Son JS, Sahoo A, Chae CS, Hwang JS, Park ZY, Im SH. JunB and c-Rel cooperatively enhance Foxp3 expression during induced regulatory T cell differentiation. Biochem Biophys Res Commun. 2011;407:141-7.
47. Dogan RI, Getoor L, Wilbur WJ, Mount SM. SplicePort-an interactive splice-site analysis tool. Nucleic Acids Res. 2007;35:W285-91.
48. Online splicing prediction by SplicePort. http://spliceport.cbcb.umd.edu/ accessed Oct 17, 2014.
49. Venet F, Chung CS, Monneret G, Huang X, Horner B, Garber M, et al. Regulatory T cell populations in sepsis and trauma. J Leukoc Biol. 2008;83:523-35.
50. Zheng Y, Josefowicz S, Chaudhry A, Peng XP, Forbush K, Rudensky AY. Role of conserved non-coding DNA elements in the Foxp3 gene in regulatory T-cell fate. Nature. 2010;463:808-12.