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Single nucleotide polymorphisms in pathogen recognition receptor genes are associated with susceptibility to meningococcal meningitis in a pediatric cohort.

Authors: Van Well, GT  Sanders, MS  Ouburg, S  Kumar, V  Van Furth, AM  Morre, SA 
Citation: van Well GT, etal., PLoS One. 2013 May 14;8(5):e64252. doi: 10.1371/journal.pone.0064252. Print 2013.
Pubmed: (View Article at PubMed) PMID:23691182
DOI: Full-text: DOI:10.1371/journal.pone.0064252

Bacterial meningitis (BM) is a serious infection of the central nervous system, frequently occurring in childhood and often resulting in hearing loss, learning disabilities, and encephalopathy. Previous studies showed that genetic variation in innate immune response genes affects susceptibility, severity, and outcome of BM. The aim of this study is to describe whether single nucleotide polymorphisms (SNPs) in pathogen recognition gene products are associated with susceptibility to develop BM in single genes analysis as well as SNP combinations. Genotype frequencies of seven SNPs, in five immune response genes encoding for Toll-like receptors (TLRs), nucleotide oligomerization domain (NOD) proteins and caspase-1 (CASP1), in 391 children with meningococcal meningitis (MM) and 82 children with pneumococcal meningitis were compared with a large cohort of 1141 ethnically matched healthy controls. Carriage of TLR4 +896 GG mutant predisposed to susceptibility to develop MM (p = 1.2*10(-5), OR = 9.4, 95% CI = 3.0-29.2). The NOD2 SNP8 mutant was significantly more frequent in MM patients compared to controls (p = 0.0004, OR = 12.2, 95% CI = 2.6-57.8). Combined carriage of TLR2 +2477 and TLR4 +896 mutants was strongly associated with MM (p = 4.2*10(-5), OR = 8.6, 95% CI = 2.7-27.3). A carrier trait of TLR4 +896 and NOD2 SNP8 mutants was also strongly associated with susceptibility to develop MM (p = 4.2*10(-5), OR = 10.6, 95% CI = 2.9-38.6). This study associates SNPs in TLR4 and NOD2 with susceptibility to develop MM.

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RGD Object Information
RGD ID: 7800668
Created: 2014-01-15
Species: All species
Last Modified: 2014-01-15
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.