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Genetic and Expression Analysis of CASP7 Gene in a European Caucasian Population with Rheumatoid Arthritis VITOR HUGO TEIXEIRA, LAURENT JACQ, SANDRA LASBLEIZ, PASCAL HILLIQUIN, CATARINA RESENDE OLIVEIRA, FRANÇOIS CORNELIS, ELISABETH PETIT-TEIXEIRA, and The European Consortium on Rheumatoid Arthritis Families (ECRAF)
ABSTRACT. Methods. CASP7 rs2227309 single nucleotide polymorphism (SNP) was genotyped in 197 French RA trio families and in 252 European RA families available for replication using Taqman allelic discrimination assay. Relative quantification of caspase 7 isoforms α and ß mRNA expression was performed from whole blood in 25 unrelated patients with RA and in 15 healthy controls by real-time quantitative reverse transcription-polymerase chain reaction. The genetic analyses for association and linkage were performed using the comparison of allelic frequencies, the transmission disequilibrium test, and the genotype relative risk. Results. We observed, in the first sample, a significant association of rs2227309-AA genotype with RA [p = 0.03, odds ratio (OR) 2.11 (95% CI 1.0-4.6)]. The second sample did not show any significant association of the AA genotype with RA [p = 0.6, OR 0.87 (95% CI 0.4-1.8)]. When the 2 samples were combined, no significant association of the AA genotype [p = 0.3, OR 1.32 (95% CI 0.8-2.2)] was observed. CASP7 isoforms α and ß mRNA were expressed in patients with RA at lower level than in healthy controls (-89%, p = 0.003 and -47%, p = 0.01; respectively). Conclusion. CASP7 rs2227309 SNP was not associated with RA in a European Caucasian population. Nevertheless, CASP7 isoforms α and ß could have an involvement in the apoptosis process in RA. (J Rheumatol First Release Sept 1 2008) Key Indexing Terms:
RHEUMATOID ARTHRITIS From GenHotel-EA3886, Evry-Paris VII Universities, Evry-Genopole, France; Faculty of Medicine, University of Coimbra, Coimbra, Portugal; Centre Hospitalier Sud Francilien, Corbeil-Essonnes; Service de Rhumatologie, Hôpital Lariboisière, Paris, France; Center for Neurosciences and Cell Biology, Faculty of Medicine, University of Coimbra; and Unité de Génétique Clinique, Hôpital Lariboisière, Paris, France. Supported by Association Française des Polyarthritiques, Société Française de Rhumatologie, Association Rhumatisme et Travail, European Union for AutoCure, Association Polyarctique, Groupe Taitbout, Genopole®. V.H. Teixeira was supported by Foundation for Science and Technology, Portugal (grant SFRH/BD/23304/2005). V.H. Teixeira, MSc, GenHotel-EA3886, Evry-Paris VII Universities and Faculty of Medicine, University of Coimbra; L. Jacq, MD, GenHotel-EA3886, Evry-Paris VII Universities and Centre Hospitalier Sud Francilien; S. Lasbleiz, MD, GenHotel-EA3886, Evry-Paris VII Universities and Service de Rhumatologie, Hôpital Lariboisière; P. Hilliquin, MD, PhD, Centre Hospitalier Sud Francilien; C.R. Oliveira, MD, PhD, Center for Neurosciences and Cell Biology, Faculty of Medicine, University of Coimbra; F. Cornélis, MD, PhD, GenHotel-EA3886, Evry-Paris VII Universities, Centre Hospitalier Sud Francilien, and Unité de Génétique Clinique, Hôpital Lariboisière; E. Petit-Teixeira, PhD, GenHotel-EA3886, Evry-Paris VII Universities. Address reprint requests to V.H. Teixeira, GenHotel-EA3886, Laboratoire Européen de Recherche pour la Polyarthrite Rhumatoïde, 2 Rue Gaston Crémieux, 91057 Evry-Genopole Cedex, France. E-mail: vitor@polyarthrite.net Accepted for publication May 13, 2008.
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