Clinical relevance of single nucleotide polymorphisms within the entire NLRP3 gene in patients with major blunt trauma

Critical Care

Volumn 15, Issue 6, 2011, Pages

  Zhang, An Qiang ^a   Zeng, Ling ^a   Gu, Wei ^a   Zhang, Lian Yang ^a   Zhou, Jian ^a   Jiang, Dong po ^a   Du, Ding Yuan ^b   Hu, Ping ^b   Yang, Ce ^a   Yan, Jun ^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

CRYOPYRIN; INTERLEUKIN 1BETA; LIPOPOLYSACCHARIDE; CARRIER PROTEIN; NLRP3 PROTEIN, HUMAN;

ADULT; AGED; ARTICLE; BLUNT TRAUMA; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; DISEASE ASSOCIATION; EX VIVO STUDY; FEMALE; GENE ACTIVITY; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC TRANSCRIPTION; GENOTYPE; HAPLOTYPE; HUMAN; HUMAN CELL; HUMAN TISSUE; LEUKOCYTE; MAJOR CLINICAL STUDY; MALE; MORBIDITY; MULTIPLE ORGAN FAILURE; MULTIPLE ORGAN FAILURE SCORE; NAMED INVENTORIES, QUESTIONNAIRES AND RATING SCALES; PRIORITY JOURNAL; PROMOTER REGION; PYROSEQUENCING; SEPSIS; SINGLE NUCLEOTIDE POLYMORPHISM; BLOOD; GENE FREQUENCY; GENETICS;

ADULT; CARRIER PROTEINS; FEMALE; GENE FREQUENCY; GENOTYPE; HAPLOTYPES; HUMANS; INTERLEUKIN-1BETA; MALE; MULTIPLE ORGAN FAILURE; POLYMORPHISM, SINGLE NUCLEOTIDE; SEPSIS; WOUNDS, NONPENETRATING;

EID: 81555235996     PISSN: 13648535     EISSN: 1466609X     Source Type: Journal    
DOI: 10.1186/cc10564     Document Type: Article

References (33)

1. Wang Z, Jiang J. An overview of research advances in road traffic trauma in China. Traffic Inj Prev 2003, 4:9-16. 10.1080/15389580309860, 14522656.
2. Neunaber C, Zeckey C, Andruszkow H, Frink M, Mommsen P, Krettek C, Hildebrand F. Immunomodulation in polytrauma and polymicrobial sepsis: where do we stand?. Recent Pat Inflamm Allergy Drug Discov 2011, 5:17-25. 10.2174/187221311794474892, 21158733.
3. Gu W, Shan YA, Zhou J, Jiang DP, Zhang L, Du DY, Wang ZG, Jiang JX. Functional significance of gene polymorphisms in the promoter of myeloid differentiation-2. Ann Surg 2007, 246:151-158. 10.1097/01.sla.0000262788.67171.3f, 1899213, 17592304.
4. Wen AQ, Wang J, Feng K, Zhu PF, Wang ZG, Jiang JX. Effects of haplotypes in the interleukin 1β promoter on lipopolysaccharide-induced interleukin 1β expression. Shock 2006, 26:25-30.
5. Martinon F, Burns K, Tschopp J. The inflammasome: a molecular platform triggering activation of inflammatory caspases and processing of proIL-β. Mol Cell 2002, 10:417-426. 10.1016/S1097-2765(02)00599-3, 12191486.
6. Hitomi Y, Ebisawa M, Tomikawa M, Imai T, Komata T, Hirota T, Harada M, Sakashita M, Suzuki Y, Shimojo N, Kohno Y, Fujita K, Miyatake A, Doi S, Enomoto T, Taniguchi M, Higashi N, Nakamura Y, Tamari M. Associations of functional NLRP3 polymorphisms with susceptibility to food-induced anaphylaxis and aspirin-induced asthma. J Allergy Clin Immunol 2009, 124:779-785.e6. 10.1016/j.jaci.2009.07.044, 19767079.
7. Tschopp J, Schroder K. NLRP3 inflammasome activation: the convergence of multiple signalling pathways on ROS production?. Nat Rev Immunol 2010, 10:210-215. 10.1038/nri2725, 20168318.
8. Fritz JH, Ferrero RL, Philpott DJ, Girardin SE. Nod-like proteins in immunity, inflammation and disease. Nat Immunol 2006, 7:1250-1257. 10.1038/ni1412, 17110941.
9. Sutterwala FS, Ogura Y, Szczepanik M, Lara-Tejero M, Lichtenberger GS, Grant EP, Bertin J, Coyle AJ, Galán JE, Askenase PW, Flavell RA. Critical role for NALP3/CIAS1/cryopyrin in innate and adaptive immunity through its regulation of caspase-1. Immunity 2006, 24:317-327. 10.1016/j.immuni.2006.02.004, 16546100.
10. Kummer JA, Broekhuizen R, Everett H, Agostini L, Kuijk L, Martinon F, van Bruggen R, Tschopp J. Inflammasome components NALP 1 and 3 show distinct but separate expression profiles in human tissues suggesting a site-specific role in the inflammatory response. J Histochem Cytochem 2007, 55:443-452. 10.1369/jhc.6A7101.2006, 17164409.
11. Fahy RJ, Exline MC, Gavrilin MA, Bhatt NY, Besecker BY, Sarkar A, Hollyfield JL, Duncan MD, Nagaraja HN, Knatz NL, Hall M, Wewers MD. Inflammasome mRNA expression in human monocytes during early septic shock. Am J Respir Crit Care Med 2008, 177:983-988. 10.1164/rccm.200703-418OC, 2361424, 18263805.
12. Verma D, Lerm M, Blomgran Julinder R, Eriksson P, Söderkvist P, Särndahl E. Gene polymorphisms in the NALP3 inflammasome are associated with interleukin-1 production and severe inflammation: relation to common inflammatory diseases?. Arthritis Rheum 2008, 58:888-894. 10.1002/art.23286, 18311798.
13. International HapMap Project: HapMap Database. , http://snp.cshl.org/cgi-perl/gbrowse/hapmap27_B36/
14. Pontillo A, Brandão LA, Guimarães RL, Segat L, Athanasakis E, Crovella S. A 3'UTR SNP in NLRP3 gene is associated with susceptibility to HIV-1 infection. J Acquir Immune Defic Syndr 2010, 54:236-240. 10.1097/QAI.0b013e3181dd17d4, 20502346.
15. Pontillo A, Brandão LA, Guimarães RL, Segat L, Araujo J, Crovella S. Two SNPs in NLRP3 gene are involved in the predisposition to type-1 diabetes and celiac disease in a pediatric population from northeast Brazil. Autoimmunity 2010, 43:583-589. 10.3109/08916930903540432, 20370570.
16. Kastbom A, Verma D, Eriksson P, Skogh T, Wingren G, Söderkvist P. Genetic variation in proteins of the cryopyrin inflammasome influences susceptibility and severity of rheumatoid arthritis (the Swedish TIRA project). Rheumatology (Oxford) 2008, 47:415-417.
17. Pontillo A, Vendramin A, Catamo E, Fabris A, Crovella S. The missense variation Q705K in CIAS1/NALP3/NLRP3 gene and an NLRP1 haplotype are associated with celiac disease. Am J Gastroenterol 2011, 106:539-544. 10.1038/ajg.2010.474, 21245836.
18. Schoultz I, Verma D, Halfvarsson J, Törkvist L, Fredrikson M, Sjöqvist U, Lördal M, Tysk C, Lerm M, Söderkvist P, Söderholm JD. Combined polymorphisms in genes encoding the inflammasome components NALP3 and CARD8 confer susceptibility to Crohn's disease in Swedish men. Am J Gastroenterol 2009, 104:1180-1188. 10.1038/ajg.2009.29, 19319132.
19. Villani AC, Lemire M, Fortin G, Louis E, Silverberg MS, Collette C, Baba N, Libioulle C, Belaiche J, Bitton A, Gaudet D, Cohen A, Langelier D, Fortin PR, Wither JE, Sarfati M, Rutgeerts P, Rioux JD, Vermeire S, Hudson TJ, Franchimont D. Common variants in the NLRP3 region contribute to Crohn's disease susceptibility. Nat Genet 2009, 41:71-76. 10.1038/ng.285, 2728932, 19098911.
20. Lewis GJ, Massey DC, Zhang H, Bredin F, Tremelling M, Lee JC, Berzuini C, Parkes M. Genetic association between NLRP3 variants and Crohn's disease does not replicate in a large UK panel. Inflamm Bowel Dis 2011, 17:1387-1391. 10.1002/ibd.21499, 21560198.
21. Wang W, Stassen FR, Surcel HM, Ohman H, Tiitinen A, Paavonen J, de Vries HJ, Heijmans R, Pleijster J, Morré SA, Ouburg S. Analyses of polymorphisms in the inflammasome-associated NLRP3 and miRNA-146A genes in the susceptibility to and tubal pathology of Chlamydia trachomatis infection. Drugs Today (Barc) 2009, 45(Suppl B):95-103.
22. Association for the Advancement of Automotive Medicine (AAAM) The Abbreviated Injury Scale 2005, Barrington, IL: AAAM, Association for the Advancement of Automotive Medicine (AAAM).
23. 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, 23:1638-1652. 10.1097/00003246-199510000-00007, 7587228.
24. Carlson CS, Eberle MA, Rieder MJ, Yi Q, Kruglyak L, Nickerson DA. Selecting a maximally informative set of single-nucleotide polymorphisms for association analyses using linkage disequilibrium. Am J Hum Genet 2004, 74:106-120. 10.1086/381000, 1181897, 14681826.
25. Xu Z, Kaplan NL, Taylor JA. TAGster: efficient selection of LD tag SNPs in single or multiple populations. Bioinformatics 2007, 23:3254-3255. 10.1093/bioinformatics/btm426, 2782964, 17827206.
26. MOTIF: Searching Sequence Protein Motifs. , http://www.genome.jp/tools/motif/
27. Chen KH, Gu W, Zeng L, Jiang DP, Zhang LY, Zhou J, Du DY, Hu P, Liu Q, Huang SN, Jiang JX. Identification of haplotype tag SNPs within the entire TLR2 gene and their clinical relevance in patients with major trauma. Shock 2011, 35:35-41. 10.1097/SHK.0b013e3181eb45b3, 20577149.
28. Anderson JP, Mueller JL, Misaghi A, Anderson S, Sivagnanam M, Kolodner RD, Hoffman HM. Initial description of the human NLRP3 promoter. Genes Immun 2008, 9:721-726. 10.1038/gene.2008.66, 18719602.
29. Chen K, Wang YT, Gu W, Zeng L, Jiang DP, Du DY, Hu P, Duan ZX, Liu Q, Huang SN, Jiang JX. Functional significance of the Toll-like receptor 4 promoter gene polymorphisms in the Chinese Han population. Crit Care Med 2010, 38:1292-1299.
30. Power and Sample Size Calculation. , http://biostat.mc.vanderbilt.edu/twiki/bin/%20view/Main/PowerSampleSize
31. Weber A, Wasiliew P, Kracht M. Interleukin-1β (IL-1β) processing pathway. Sci Signal 2010, 3:cm2. 10.1126/scisignal.3105cm2, 20086236.
32. Barrett JC, Fry B, Maller J, Daly MJ. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 2005, 21:263-265. 10.1093/bioinformatics/bth457, 15297300.
33. Dehghan A, Yang Q, Peters A, Basu S, Bis JC, Rudnicka AR, Kavousi M, Chen MH, Baumert J, Lowe GD, McKnight B, Tang W, de Maat M, Larson MG, Eyhermendy S, McArdle WL, Lumley T, Pankow JS, Hofman A, Massaro JM, Rivadeneira F, Kolz M, Taylor KD, van Duijn CM, Kathiresan S, Illig T, Aulchenko YS, Volcik KA, Johnson AD, Uitterlinden AG, et al. Association of novel genetic loci with circulating fibrinogen levels: a genome-wide association study in 6 population-based cohorts. Circ Cardiovasc Genet 2009, 2:125-133. 10.1161/CIRCGENETICS.108.825224, 2764985, 20031576.