RGD Reference Report - NOD2 polymorphisms in clinical phenotypes of common variable immunodeficiency disorders. - Rat Genome Database

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NOD2 polymorphisms in clinical phenotypes of common variable immunodeficiency disorders.

Authors: Packwood, K  Drewe, E  Staples, E  Webster, D  Witte, T  Litzman, J  Egner, W  Sargur, R  Sewell, W  Lopez-Granados, E  Seneviratne, SL  Powell, RJ  Ferry, BL  Chapel, HM 
Citation: Packwood K, etal., Clin Exp Immunol. 2010 Sep;161(3):536-41. doi: 10.1111/j.1365-2249.2010.04216.x.
RGD ID: 5508739
Pubmed: PMID:20646002   (View Abstract at PubMed)
PMCID: PMC2962972   (View Article at PubMed Central)
DOI: DOI:10.1111/j.1365-2249.2010.04216.x   (Journal Full-text)

Common variable immunodeficiency disorders (CVIDs) are a heterogeneous group of diseases characterized by hypogammaglobulinaemia and consequent susceptibility to infection. CVID patients commonly develop a variety of additional manifestations for which the causative factors are not fully understood. Two such manifestations are granulomatous disease and enteropathy. Because the ability to predict complications would aid clinical management, we continue to search for possible disease modifier genes. NOD2 acts a microbial sensor and is involved in proinflammatory signalling. Particular mutations of the NOD2 gene are associated with Crohn's disease including gly908arg, leu1007finsc and arg702trp polymorphisms. We hypothesized that NOD2 polymorphisms may be a disease modifier gene towards an enteropathic or granulomatous phenotype within CVIDs. Sequence-specific primers returned genotypes for 285 CVID patients from centres across the United Kingdom and Europe. We present the frequencies of the different phenotypes of patients within our international cohort. Arg702trp polymorphisms were significantly less frequent than wild-type (WT) (P = 0.038) among international CVID patients with splenomegaly. Gly908arg polymorphisms were more prevalent than WT in UK patients with autoimmune disorders (P = 0.049) or enteropathy (P = 0.049). NOD2 polymorphisms were not more prevalent than WT in CVID patients with clinical phenotypes of granulomata. UK allele frequencies of 0.014, 0.056 and 0.026 were found for gly908arg, arg702trp and leu1007finsc NOD2 polymorphisms, respectively. These do not differ significantly from UK immunocompetent controls confirming, as expected, that in addition these NOD2 polymorphisms do not confer susceptibility to CVIDs per se.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
autoimmune disease  IAGP 5508739associated with Common Variable Immunodeficiency and DNA:missense mutation: :p.G908R (human)RGD 
autoimmune disease  ISONOD2 (Homo sapiens)5508739; 5508739associated with Common Variable Immunodeficiency and DNA:missense mutation: :p.G908R (human)RGD 
intestinal disease  IAGP 5508739associated with Common Variable Immunodeficiency and DNA:missense mutation: :p.G908R (human)RGD 
intestinal disease  ISONOD2 (Homo sapiens)5508739; 5508739associated with Common Variable Immunodeficiency and DNA:missense mutation: :p.G908R (human)RGD 
Splenomegaly susceptibilityIAGP 5508739associated with Common Variable Immunodeficiency and DNA:missense mutation:cds:p.R702W (rs2066844) (human)RGD 
Splenomegaly susceptibilityISONOD2 (Homo sapiens)5508739; 5508739associated with Common Variable Immunodeficiency and DNA:missense mutation:cds:p.R702W (rs2066844) (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Splenomegaly susceptibilityIAGP 5508739associated with Common Variable Immunodeficiency and DNA:missense mutation:cds:p.R702W (rs2066844)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