RGD Reference Report - Association of a NOD2 gene polymorphism and T-helper 17 cells with presumed ocular toxoplasmosis. - Rat Genome Database

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Association of a NOD2 gene polymorphism and T-helper 17 cells with presumed ocular toxoplasmosis.

Authors: Dutra, MS  Bela, SR  Peixoto-Rangel, AL  Fakiola, M  Cruz, AG  Gazzinelli, A  Quites, HF  Bahia-Oliveira, LM  Peixe, RG  Campos, WR  Higino-Rocha, AC  Miller, NE  Blackwell, JM  Antonelli, LR  Gazzinelli, RT 
Citation: Dutra MS, etal., J Infect Dis. 2013 Jan 1;207(1):152-63. doi: 10.1093/infdis/jis640. Epub 2012 Oct 24.
RGD ID: 8547527
Pubmed: PMID:23100559   (View Abstract at PubMed)
PMCID: PMC3523795   (View Article at PubMed Central)
DOI: DOI:10.1093/infdis/jis640   (Journal Full-text)

Retinochoroiditis manifests in patients infected with Toxoplasma gondii. Here, we assessed 30 sibships and 89 parent/case trios of presumed ocular toxoplasmosis (POT) to evaluate associations with polymorphisms in the NOD2 gene. Three haplotype-tagging single-nucleotide polymorphisms (tag-SNPs) within the NOD2 gene were genotyped. The family-based association test showed that the tag-SNP rs3135499 is associated with retinochoroiditis (P = .039). We then characterized the cellular immune response of 59 cases of POT and 4 cases of active ocular toxoplasmosis (AOT). We found no differences in levels of interferon gamma (IFN-gamma) and interleukin 2 produced by T-helper 1 cells when comparing patients with AOT or POT to asymptomatic individuals. Unexpectedly, we found an increased interleukin 17A (IL-17A) production in patients with POT or OAT. In patients with POT or AOT, the main cellular source of IL-17A was CD4(+)CD45RO(+)T-bet(-)IFN-gamma(-) T-helper 17 cells. Altogether, our results suggest that NOD2 influences the production of IL-17A by CD4(+) T lymphocytes and might contribute to the development of ocular toxoplasmosis.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
NOD2HumanOcular Toxoplasmosis susceptibilityIAGP DNA:snp:3' utr:g.*397A>C (rs3135499)(human)RGD 
Nod2RatOcular Toxoplasmosis susceptibilityISONOD2 (Homo sapiens)DNA:snp:3' utr:g.*397A>C (rs3135499)(human)RGD 
Nod2MouseOcular Toxoplasmosis susceptibilityISONOD2 (Homo sapiens)DNA:snp:3' utr:g.*397A>C (rs3135499)(human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
NOD2HumanAbnormal chorioretinal morphology susceptibilityIAGP DNA:snp:3' utr:g.*397A>C (rs3135499)RGD 
NOD2HumanAbnormal circulating interleukin concentration susceptibilityIAGP DNA:snp:3' utr:g.*397A>C (rs3135499)RGD 
NOD2HumanIncreased circulating IgG concentration susceptibilityIAGP DNA:snp:3' utr:g.*397A>C (rs3135499)RGD 
Objects Annotated

Genes (Rattus norvegicus)
Nod2  (nucleotide-binding oligomerization domain containing 2)

Genes (Mus musculus)
Nod2  (nucleotide-binding oligomerization domain containing 2)

Genes (Homo sapiens)
NOD2  (nucleotide binding oligomerization domain containing 2)


Additional Information