Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

NOD-Rezeptor C2

Das NOD2-Gen ist bei der Regulation Immunantwort von Leukozyten beteiligt. Mutationen sind für das autosomal dominante Blau-Syndrom verantwortlich. Weiterhin sind verschiedene genetische Variationen in diesem Gen mit entzündlichen Erkrankungen wie Morbus Crohn, Sarkoidose und Mittelmeerfiber assoziiert.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Familiäres Mittelmeerfieber
MEFV
NOD2
SAA1
TNFRSF1A

Referenzen:

1.

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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2.

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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3.

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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4.

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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5.

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

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6.

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

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7.

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

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8.

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

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9.

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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10.

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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11.

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

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12.

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

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13.

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

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14.

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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15.

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

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16.

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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17.

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

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18.

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

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19.

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

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20.

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

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21.

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

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22.

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

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23.

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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24.

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

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25.

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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26.

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

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27.

None (2007) Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.

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28.

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

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29.

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

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30.

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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31.

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

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32.

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

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33.

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

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34.

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

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35.

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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36.

None (2002) Current concepts in psoriatic arthritis.

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37.

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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38.

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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39.

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

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40.

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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41.

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

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42.

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

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43.

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

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44.

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

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45.

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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46.

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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47.

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

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48.

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

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49.

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

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50.

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

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51.

NCBI article

NCBI 64127 external link
52.

OMIM.ORG article

Omim 605956 external link
53.

Orphanet article

Orphanet ID 123845 external link
Update: 14. August 2020
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