The Journal of rheumatology · 2003
NOD2/CARD15 gene mutation is not associated with susceptibility to Wegener's granulomatosis.
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Newman Bill, Rubin Laurence A, Siminovitch Katherine A
Аннотация
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.
CONCLUSION: Our data provide no evidence to support an association between CARD15 and 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.
CONCLUSION: Our data provide no evidence to support an association between CARD15 and WG.