NOD2/CARD15 Gene Mutation Is Not Associated with Susceptibility to Wegener's Granulomatosis

BILL NEWMAN, LAURENCE A. RUBIN, and KATHERINE A. SIMINOVITCH

ABSTRACT.

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. (J Rheumatol 2003;30:305-7)

Key Indexing Terms:

WEGENER'S GRANULOMATOSIS
CARD15/NOD2
CROHN'S DISEASE

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From the Departments of Medicine, Immunology, and Molecular and Medical Genetics, University of Toronto, the Toronto General Hospital Research Institute, and the Mount Sinai Hospital Samuel Lunenfeld Research Institute; and the Department of Medicine and Immunology, University of Toronto and St. Michael's Hospital, Toronto, Ontario, Canada.

Supported by grants from the Canadian Arthritis Network, the Canadian Genetics Disease Network, and Canadian Institutes for Health Research (CIHR). Dr. Newman is supported by fellowships from the Canadian Arthritis Network and the University of Toronto, Department of Medicine. Dr. Siminovitch is a Senior Scientist of the CIHR.

B. Newman, MRCP, PhD; K.A. Siminovitch, MD, Departments of Medicine, Immunology, and Molecular and Medical Genetics, University of Toronto, the Toronto General Hospital Research Institute, and the Mount Sinai Hospital Samuel Lunenfeld Research Institute; L.A. Rubin, MD, Department of Medicine and Immunology, University of Toronto, St. Michael's Hospital.

Address reprint requests to Dr. K.A. Siminovitch, Room 656A, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, 600 University Avenue, Toronto, Ontario M5S 1XG, Canada. E-mail: ksimin@mshri.on.ca

Submitted June 27, 2002; revision accepted July 26, 2002.

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