Single Nucleotide Polymorphisms in Pathogen Recognition Receptor Genes Are Associated with Susceptibility to Meningococcal Meningitis in a Pediatric Cohort

PLoS ONE

Volumn 8, Issue 5, 2013, Pages

  van Well, Gijs Th J ^a,b   Sanders, Marieke S ^a   Ouburg, Sander ^a   Kumar, Vinod ^c   van Furth, A Marceline ^a   Morré, Servaas A ^a,d  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^c UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^d MAASTRICHT UNIVERSITY   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

CASPASE RECRUITMENT DOMAIN PROTEIN 15; CASPASE RECRUITMENT DOMAIN PROTEIN 4; DNA; INTERLEUKIN 1BETA CONVERTING ENZYME; TOLL LIKE RECEPTOR 2; TOLL LIKE RECEPTOR 4; NUCLEOTIDE BINDING OLIGOMERIZATION DOMAIN PROTEIN; TOLL LIKE RECEPTOR;

ARTICLE; CASP1 GENE; CHILD; COHORT ANALYSIS; CONTROLLED STUDY; EPIDEMIC MENINGITIS; FEMALE; GENE; GENE FREQUENCY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC CODE; GENETIC IDENTIFICATION; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENETIC TRAIT; GENETIC VARIABILITY; HETEROZYGOTE; HOMOZYGOTE; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; NOD1 GENE; NOD2 GENE; NONHUMAN; PNEUMOCOCCAL MENINGITIS; PRESCHOOL CHILD; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; TLR2 GENE; TLR4 GENE; GENETIC PREDISPOSITION; GENETICS;

CASPASE 1; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; MALE; MENINGITIS, MENINGOCOCCAL; NOD SIGNALING ADAPTOR PROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE; TOLL-LIKE RECEPTORS;

EID: 84877743856     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0064252     Document Type: Article

References (44)

1. Burgner D, Jamieson SE, Blackwell JM, (2006) Genetic susceptibility to infectious diseases: big is beautiful, but will bigger be even better? Lancet Infect Dis 6: 653-663.
2. Haralambous E, Weiss HA, Radalowicz A, Hibberd ML, Booy R, et al. (2003) Sibling familial risk ratio of meningococcal disease in UK Caucasians. Epidemiol Infect 130: 413-418.
3. Somand D, Meurer W (2009) Central nervous system infections. Emerg Med Clin North Am 27: 89-100, ix.
4. de Jonge RC, van Furth AM, Wassenaar M, Gemke RJ, Terwee CB, (2010) Predicting sequelae and death after bacterial meningitis in childhood: a systematic review of prognostic studies. BMC Infect Dis 10: 232.
5. Gerber J, Nau R, (2010) Mechanisms of injury in bacterial meningitis. Curr Opin Neurol 23: 312-318.
6. Becker CE, O'Neill LA, (2007) Inflammasomes in inflammatory disorders: the role of TLRs and their interactions with NLRs. Semin Immunopathol 29: 239-248.
7. Sanders MS, van Well GT, Ouburg S, Morre SA, van Furth AM, (2011) Genetic variation of innate immune response genes in invasive pneumococcal and meningococcal disease applied to the pathogenesis of meningitis. Genes Immun 12: 321-334.
8. Brouwer MC, de Gans J, Heckenberg SG, Zwinderman AH, van der Poll T, et al. (2009) Host genetic susceptibility to pneumococcal and meningococcal disease: a systematic review and meta-analysis. Lancet Infect Dis 9: 31-44.
9. Brouwer MC, Read RC, van de Beek D, (2010) Host genetics and outcome in meningococcal disease: a systematic review and meta-analysis. Lancet Infect Dis 10: 262-274.
10. Sanders MS, van Well GT, Ouburg S, Lundberg PS, van Furth AM, et al. (2011) Single nucleotide polymorphisms in TLR9 are highly associated with susceptibility to bacterial meningitis in children. Clin Infect Dis 52: 475-480.
11. van Well GT, Sanders MS, Ouburg S, van Furth AM, Morre SA, (2012) Polymorphisms in toll-like receptors 2, 4, and 9 are highly associated with hearing loss in survivors of bacterial meningitis. PLoS One 7: e35837.
12. Kim KS, (2003) Pathogenesis of bacterial meningitis: from bacteraemia to neuronal injury. Nat Rev Neurosci 4: 376-385.
13. Klein M, Obermaier B, Angele B, Pfister HW, Wagner H, et al. (2008) Innate immunity to pneumococcal infection of the central nervous system depends on toll-like receptor (TLR) 2 and TLR4. J Infect Dis 198: 1028-1036.
14. Chauhan VS, Sterka DG, Furr SR, Young AB, Marriott I, (2009) NOD2 plays an important role in the inflammatory responses of microglia and astrocytes to bacterial CNS pathogens. Glia 57: 414-423.
15. Liu X, Chauhan VS, Young AB, Marriott I, (2010) NOD2 mediates inflammatory responses of primary murine glia to Streptococcus pneumoniae. Glia 58: 839-847.
16. Koedel U, Winkler F, Angele B, Fontana A, Flavell RA, et al. (2002) Role of Caspase-1 in experimental pneumococcal meningitis: Evidence from pharmacologic Caspase inhibition and Caspase-1-deficient mice. Ann Neurol 51: 319-329.
17. Koomen I, Grobbee DE, Roord JJ, Donders R, Jennekens-Schinkel A, et al. (2003) Hearing loss at school age in survivors of bacterial meningitis: assessment, incidence, and prediction. Pediatrics 112: 1049-1053.
18. Trynka G, Hunt KA, Bockett NA, Romanos J, Mistry V, et al. (2011) Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease. Nat Genet 43: 1193-1201.
19. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, et al. (2007) PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 81: 559-575.
20. Abraham C, Cho JH, (2006) Functional consequences of NOD2 (CARD15) mutations. Inflamm Bowel Dis 12: 641-650.
21. Bonen DK, Ogura Y, Nicolae DL, Inohara N, Saab L, et al. (2003) Crohn's disease-associated NOD2 variants share a signaling defect in response to lipopolysaccharide and peptidoglycan. Gastroenterology 124: 140-146.
22. Sterka D Jr, Marriott I, (2006) Characterization of nucleotide-binding oligomerization domain (NOD) protein expression in primary murine microglia. J Neuroimmunol 179: 65-75.
23. Sterka D Jr, Rati DM, Marriott I, (2006) Functional expression of NOD2, a novel pattern recognition receptor for bacterial motifs, in primary murine astrocytes. Glia 53: 322-330.
24. Seok J, Warren HS, Cuenca AG, Mindrinos MN, Baker HV, et al. (2013) Genomic responses in mouse models poorly mimic human inflammatory diseases. Proc Natl Acad Sci U S A 110: 3507-3512.
25. Borm ME, van Bodegraven AA, Mulder CJ, Kraal G, Bouma G, (2005) A NFKB1 promoter polymorphism is involved in susceptibility to ulcerative colitis. Int J Immunogenet 32: 401-405.
26. Poltorak A, He X, Smirnova I, Liu MY, Van Huffel C, et al. (1998) Defective LPS signaling in C3H/HeJ and C57BL/10ScCr mice: mutations in Tlr4 gene. Science 282: 2085-2088.
27. Woehrl B, Brouwer MC, Murr C, Heckenberg SG, Baas F, et al. (2011) Complement component 5 contributes to poor disease outcome in humans and mice with pneumococcal meningitis. J Clin Invest 121: 3943-3953.
28. Bottcher T, von Mering M, Ebert S, Meyding-Lamade U, Kuhnt U, et al. (2003) Differential regulation of Toll-like receptor mRNAs in experimental murine central nervous system infections. Neurosci Lett 344: 17-20.
29. Corr SC, O'Neill LA, (2009) Genetic variation in Toll-like receptor signalling and the risk of inflammatory and immune diseases. J Innate Immun 1: 350-357.
30. Toshchakov V, Jones BW, Perera PY, Thomas K, Cody MJ, et al. (2002) TLR4, but not TLR2, mediates IFN-beta-induced STAT1alpha/beta-dependent gene expression in macrophages. Nat Immunol 3: 392-398.
31. Sato S, Nomura F, Kawai T, Takeuchi O, Muhlradt PF, et al. (2000) Synergy and cross-tolerance between toll-like receptor (TLR) 2- and TLR4-mediated signaling pathways. J Immunol 165: 7096-7101.
32. Beutler E, Gelbart T, West C, (2001) Synergy between TLR2 and TLR4: a safety mechanism. Blood Cells Mol Dis 27: 728-730.
33. Wagner J, Sim WH, Ellis JA, Ong EK, Catto-Smith AG, et al. (2010) Interaction of Crohn's disease susceptibility genes in an Australian paediatric cohort. PLoS One 5: e15376.
34. Hoshino K, Takeuchi O, Kawai T, Sanjo H, Ogawa T, et al. (1999) Cutting edge: Toll-like receptor 4 (TLR4)-deficient mice are hyporesponsive to lipopolysaccharide: evidence for TLR4 as the Lps gene product. J Immunol 162: 3749-3752.
35. Arbour NC, Lorenz E, Schutte BC, Zabner J, Kline JN, et al. (2000) TLR4 mutations are associated with endotoxin hyporesponsiveness in humans. Nat Genet 25: 187-191.
36. Agnese DM, Calvano JE, Hahm SJ, Coyle SM, Corbett SA, et al. (2002) Human toll-like receptor 4 mutations but not CD14 polymorphisms are associated with an increased risk of gram-negative infections. J Infect Dis 186: 1522-1525.
37. Faber J, Henninger N, Finn A, Zenz W, Zepp F, et al. (2009) A toll-like receptor 4 variant is associated with fatal outcome in children with invasive meningococcal disease. Acta Paediatr 98: 548-552.
38. Allen A, Obaro S, Bojang K, Awomoyi AA, Greenwood BM, et al. (2003) Variation in Toll-like receptor 4 and susceptibility to group A meningococcal meningitis in Gambian children. Pediatr Infect Dis J 22: 1018-1019.
39. (AMC/RIVM) NRLfBM (2011) Bacterial meningitis in the Netherlands; annual report 2010. Amsterdam: University of Amsterdam.
40. Lee WC, (2003) Searching for disease-susceptibility loci by testing for Hardy-Weinberg disequilibrium in a gene bank of affected individuals. Am J Epidemiol 158: 397-400.
41. de Jonge RC, Sanders MS, Terwee CB, Heymans MW, Gemke RJ, et al. (2013) Independent validation of an existing model enables prediction of hearing loss after childhood bacterial meningitis. PLoS One 8: e58707.
42. Koomen I, Grobbee DE, Roord JJ, Jennekens-Schinkel A, van der Lei HD, et al. (2004) Prediction of academic and behavioural limitations in school-age survivors of bacterial meningitis. Acta Paediatr 93: 1378-1385.
43. Brand A, Brand H, Schulte in den Baumen T, (2008) The impact of genetics and genomics on public health. Eur J Hum Genet 16: 5-13.
44. Brand A, (2009) Integrative genomics, personal-genome tests and personalized healthcare: the future is being built today. Eur J Hum Genet 17: 977-978.