NOD2/CARD15 gene mutation is not associated with susceptibility to Wegener's granulomatosis.
OBJECTIVE
Polymorphisms and mutations in the NOD2/CARD15 gene have been reported to increase susceptibility to Crohn's disease (CD) and the rare Blau syndrome, respectively. Both conditions are characterized by granuloma formation. We assessed the influence of variants in the CARD15 gene in another disorder characterized by granuloma, Wegener's granulomatosis (WG).


METHODS
Direct DNA sequencing of the CARD15 gene was performed on 25 patients with WG, and an additional 73 patients were genotyped for the 3 CD associated variants, R702W, G908R, and fs1007.


RESULTS
In the WG patients, 10 previously reported single nucleotide polymorphisms (SNP) were identified. No SNP were present in the WG patients at significantly different frequencies than the control population.


CONCLUSIONS
Our data provide no evidence to support an association between CARD15 and WG.
Newman
Bill
B
Department of Medicine, University of Toronto and the Toronto General Hospital Research Institute, Ontario, Canada.
Rubin
Laurence A
LA
Siminovitch
Katherine A
KA
D002352:Carrier Proteins / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D014890:Granulomatosis with Polyangiitis / Q000235:genetics*; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D009154:Mutation; D053473:Nod2 Signaling Adaptor Protein; D011110:Polymorphism, Genetic
D002352:Carrier Proteins; D047908:Intracellular Signaling Peptides and Proteins; C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein