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Rheumatology Advance Access published online on February 28, 2003
Rheumatology, doi:10.1093/rheumatology/keg192
Rheumatology © British Society for Rheumatology 2003; all rights reserved
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© 2003 British Society for Rheumatology 2003; all rights reserved

Original Papers

The three most common CARD15 mutations associated with Crohn's disease and the chromosome 16 susceptibility locus for systemic lupus erythematosus

I. Ferreiros-Vidal 1*, J. Garcia-Meijide 2, P. Carreira 3, F. Barros 4, A. Carracedo 4, J. J. Gomez-Reino 5, A. Gonzalez 1

1 Research Laboratory 2, Hospital Clinico Universitario de Santiago, Santiago de Compostela
2 Rheumatology Unit, Hospital Clinico Universitario de Santiago, Santiago de Compostela
3 Rheumatology Unit, Hospital 12 de Octubre, Madrid
4 Molecular Medicine Unit, INGO-Universidad de Santiago de Compostela, Spain
5 Research Laboratory 2, Hospital Clinico Universitario de Santiago, Santiago de Compostela; Rheumatology Unit, Hospital Clinico Universitario de Santiago, Santiago de Compostela

* Corresponding author. E-mail: gon2906{at}globalum.com.

Received 16 May 2002 ; accepted 6 November 2002

Abstract

Objective. To test if the three most common mutations contributing to Crohn's disease on the CARD15/NOD2 gene could contribute also to genetic susceptibility to systemic lupus erythematosus (SLE), which has been found to be linked to the region of chromosome 16q13 where the CARD15 gene is located.

Methods. We obtained DNA samples from the blood of 189 SLE patients (according to the American College of Rheumatology classification criteria) and 194 controls of Spanish ancestry. Genotypes for the three CARD15 mutations (3020insC, 2722G>C and 2104C>T) were determined by hybridization with fluorescence resonance energy transfer probes on a LightCycler real-time polymerase chain reaction system.

Results. CARD15 genotypes were similar in SLE patients and in controls from the general population (allelic frequencies for 3020insC 0.013 in SLE patients vs 0.013 in controls; for 2722G > C 0.011 vs 0.008; and for 2104C > T 0.032 vs 0.051).

Conclusion. We did not find evidence that the Crohn's disease-associated mutations on CARD15 contributed to SLE susceptibility.

Key words: Systemic lupus erythematosus, Crohn's disease, Genetic predisposition to disease, Autoimmune diseases.
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