Abstract
Objective
To study the possible role of the caspase 7 (CASP7) gene in susceptibility to rheumatoid arthritis (RA) in a European Caucasian population.
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 β 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 β 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 β could have an involvement in the apoptosis process in RA.
Key Indexing Terms:Footnotes
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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.
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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).
- Accepted for publication May 13, 2008.
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