RGD Reference Report - Low prevalence of NOD2 SNPs in Behcet's disease suggests protective association in Caucasians. - Rat Genome Database

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Low prevalence of NOD2 SNPs in Behcet's disease suggests protective association in Caucasians.

Authors: Kappen, JH  Wallace, GR  Stolk, L  Rivadeneira, F  Uitterlinden, AG  Van Daele, PL  Laman, JD  Kuijpers, RW  Baarsma, GS  Stanford, MR  Fortune, F  Madanat, W  Van Hagen, PM  Van Laar, JA 
Citation: Kappen JH, etal., Rheumatology (Oxford). 2009 Nov;48(11):1375-7. doi: 10.1093/rheumatology/kep292. Epub 2009 Sep 11.
RGD ID: 8158059
Pubmed: (View Article at PubMed) PMID:19748964
DOI: Full-text: DOI:10.1093/rheumatology/kep292

OBJECTIVE: It has been shown previously that three nucleotide-binding oligomerization domain containing 2 (NOD2) variants (Arg702Trp, Gly908Arg and Lue1007fs) are associated with Crohn's disease (CD), a disorder clinically resembling Behcet's disease (BD). We studied the frequency of these variants in BD patients. METHODS: DNA samples of 200 BD patients [59 Caucasians, 139 Middle Easterns (MEs) of Arab descent and 2 Asians] and 520 healthy controls (444 Caucasians and 76 MEs) were genotyped using a Taqman assay. RESULTS: Both the Arg702Trp and Leu1007fs (frameshift) variants were significantly less frequently present among BD patients compared with healthy controls (0.5 vs 5.8%; P < 1.10(-5) and 0.0 vs 1.8%; P < 0.007, respectively). In the Caucasian subpopulation, Arg702Trp was significantly less frequent in the BD group as compared with the controls (P = 0.04); whereas in the ME subpopulation, a trend was observed (P < 0.06). CONCLUSIONS: Of the three CD-associated single nucleotide polymorphisms, one of the variant NOD2 alleles, was found to be present significantly less in Caucasian BD patients.


Disease Annotations    
Behcet's disease  (IAGP,ISO)

Phenotype Annotations    

Human Phenotype
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