Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Nucleotide-binding oligomerization domain containing 2

NOD2 gene is a component of immune response regulation in leucocytes. Mutations can cause autosomal dominant Balu syndrome. Also genetic variations are associated with several inflammatory diseases such as Crohn disease, Sarcoidosis, and Mediterranean fever.

Genetests:

Clinic Method Carrier testing
Turnaround 5
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25
Specimen type genomic DNA

Related Diseases:

Familial mediterranean fever
MEFV
NOD2
SAA1
TNFRSF1A

References:

1.

Ogura Y et al. (2001) Nod2, a Nod1/Apaf-1 family member that is restricted to monocytes and activates NF-kappaB.

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2.

Hugot JP et al. (2001) Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease.

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3.

Ogura Y et al. (2001) A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease.

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4.

Hampe J et al. (2001) Association between insertion mutation in NOD2 gene and Crohn's disease in German and British populations.

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5.

Miceli-Richard C et al. (2001) CARD15 mutations in Blau syndrome.

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6.

Lesage S et al. (2002) CARD15/NOD2 mutational analysis and genotype-phenotype correlation in 612 patients with inflammatory bowel disease.

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7.

Murillo L et al. (2002) CARD15 gene and the classification of Crohn's disease.

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8.

Vermeire S et al. (2002) CARD15 genetic variation in a Quebec population: prevalence, genotype-phenotype relationship, and haplotype structure.

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9.

Hampe J et al. (2002) Association of NOD2 (CARD 15) genotype with clinical course of Crohn's disease: a cohort study.

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10.

Gladman DD et al. (2002) Current concepts in psoriatic arthritis.

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11.

Yamazaki K et al. (2002) Absence of mutation in the NOD2/CARD15 gene among 483 Japanese patients with Crohn's disease.

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12.

van Heel DA et al. (2002) Fine mapping of the IBD1 locus did not identify Crohn disease-associated NOD2 variants: implications for complex disease genetics.

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13.

Karason A et al. (2003) A susceptibility gene for psoriatic arthritis maps to chromosome 16q: evidence for imprinting.

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14.

Croucher PJ et al. (2003) Haplotype structure and association to Crohn's disease of CARD15 mutations in two ethnically divergent populations.

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15.

Sugimura K et al. (2003) A novel NOD2/CARD15 haplotype conferring risk for Crohn disease in Ashkenazi Jews.

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16.

Chamaillard M et al. (2003) Gene-environment interaction modulated by allelic heterogeneity in inflammatory diseases.

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17.

Ogura Y et al. (2003) Genetic variation and activity of mouse Nod2, a susceptibility gene for Crohn's disease.

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18.

Rahman P et al. (2003) CARD15: a pleiotropic autoimmune gene that confers susceptibility to psoriatic arthritis.

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19.

Fidder HH et al. (2003) Association between mutations in the CARD15 (NOD2) gene and Crohn's disease in Israeli Jewish patients.

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20.

van Heel DA et al. (2003) The IBD6 Crohn's disease locus demonstrates complex interactions with CARD15 and IBD5 disease-associated variants.

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21.

Pauleau AL et al. (2003) Role of nod2 in the response of macrophages to toll-like receptor agonists.

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22.

Giachino D et al. (2004) Analysis of the CARD15 variants R702W, G908R and L1007fs in Italian IBD patients.

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23.

Tukel T et al. (2004) Crohn disease: frequency and nature of CARD15 mutations in Ashkenazi and Sephardi/Oriental Jewish families.

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24.

Kanazawa N et al. (2004) Presence of a sporadic case of systemic granulomatosis syndrome with a CARD15 mutation.

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25.

Stoll M et al. (2004) Genetic variation in DLG5 is associated with inflammatory bowel disease.

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26.

Li J et al. (2004) Regulation of IL-8 and IL-1beta expression in Crohn's disease associated NOD2/CARD15 mutations.

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27.

Watanabe T et al. (2004) NOD2 is a negative regulator of Toll-like receptor 2-mediated T helper type 1 responses.

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28.

Kanazawa N et al. (2005) Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-kappaB activation: common genetic etiology with Blau syndrome.

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29.

Kobayashi KS et al. (2005) Nod2-dependent regulation of innate and adaptive immunity in the intestinal tract.

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30.

Maeda S et al. (2005) Nod2 mutation in Crohn's disease potentiates NF-kappaB activity and IL-1beta processing.

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31.

van Duist MM et al. (2005) A new CARD15 mutation in Blau syndrome.

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32.

van Heel DA et al. () Muramyl dipeptide and toll-like receptor sensitivity in NOD2-associated Crohn's disease.

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33.

Buhner S et al. (2006) Genetic basis for increased intestinal permeability in families with Crohn's disease: role of CARD15 3020insC mutation?

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34.

Netea MG et al. (2005) The frameshift mutation in Nod2 results in unresponsiveness not only to Nod2- but also Nod1-activating peptidoglycan agonists.

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35.

King K et al. (2006) Mutation, selection, and evolution of the Crohn disease susceptibility gene CARD15.

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36.

Medici V et al. (2006) Extreme heterogeneity in CARD15 and DLG5 Crohn disease-associated polymorphisms between German and Norwegian populations.

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37.

et al. (2007) Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.

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38.

Goyal M et al. (2007) Rasmussen syndrome and CNS granulomatous disease with NOD2/CARD15 mutations.

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39.

King K et al. (2007) Identification, evolution, and association study of a novel promoter and first exon of the human NOD2 (CARD15) gene.

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40.

Dhondt V et al. () Leg ulcers: a new symptom of Blau syndrome?

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41.

Divangahi M et al. (2008) NOD2-deficient mice have impaired resistance to Mycobacterium tuberculosis infection through defective innate and adaptive immunity.

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42.

Hruz P et al. (2009) NOD2 contributes to cutaneous defense against Staphylococcus aureus through alpha-toxin-dependent innate immune activation.

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43.

Cooney R et al. (2010) NOD2 stimulation induces autophagy in dendritic cells influencing bacterial handling and antigen presentation.

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44.

Geddes K et al. (2011) Identification of an innate T helper type 17 response to intestinal bacterial pathogens.

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45.

Rivas MA et al. (2011) Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease.

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46.

MacArthur DG et al. (2012) A systematic survey of loss-of-function variants in human protein-coding genes.

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47.

Lee FI et al. (1990) Increased occurrence of psoriasis in patients with Crohn's disease and their relatives.

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48.

Brain O et al. (2013) The intracellular sensor NOD2 induces microRNA-29 expression in human dendritic cells to limit IL-23 release.

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49.

Nakamura N et al. (2014) Endosomes are specialized platforms for bacterial sensing and NOD2 signalling.

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50.

Nair RP et al. (1997) Evidence for two psoriasis susceptibility loci (HLA and 17q) and two novel candidate regions (16q and 20p) by genome-wide scan.

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Update: Sept. 26, 2018