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IRF5 rs2004640-T allele, the new genetic factor for systemic lupus erythematosus, is not associated with rheumatoid arthritis
  1. Sophie Garnier1,
  2. Philippe Dieudé1,2,
  3. Laetitia Michou1,3,
  4. Sandra Barbet1,
  5. Alice Tan1,
  6. Sandra Lasbleiz3,4,
  7. Thomas Bardin1,4,
  8. Bernard Prum5,
  9. François Cornélis6,
  10. for ECRAF*
  1. 1GenHotel-EA3886, Laboratoire Européen de Recherche pour la Polyarthrite Rhumatoïde, Université d’Evry Val d’Essonne-Université Paris VII, Evry-Genopole, France
  2. 2Service de Rhumatologie, Hôpital Bichat, AP-HP, Paris, France
  3. 3Fédération de Rhumatologie, Pôle de l’Appareil Locomoteur, Hôpital Lariboisière, AP-HP, Paris Cedex 10, France
  4. 4Unité de Génétique Clinique, Pôle des Laboratoires Médicaux-Imagerie-Pharmacie, Hôpital Lariboisière, AP-HP, Paris, France
  5. 5Laboratoire Statistique et Génome, Genopole, Evry, France
  6. 6Consultation de Génétique Adulte, Centre Hospitalier Sud-Francilien, Corbeil-Essonne, France
  1. Correspondence to:
    MsS Garnier
    GenHotel-EA3886, Laboratoire Européen de Recherche pour la Polyarthrite Rhumatoïde, 2 rue Gaston Crémieux, 91057 Evry-Genopole Cedex, France;garniersophie{at}


Background: Recently, a new genetic factor within the interferon regulatory factor 5 (IRF5) gene was demonstrated for systemic lupus erythematosus (SLE) through linkage and association: the rs2004640-T allele. IRF5 is involved in the production of rheumatoid arthritis (RA) cytokines, and SLE already shares with RA one genetic factor within the tyrosine phosphatase PTPN22 gene.

Aim: To test the hypothesis that the SLE IRF5 genetic factor could also be shared with RA.

Patients and methods: 100 French Caucasian trio families with RA were genotyped and analysed with the transmission disequilibrium test, the frequency comparison of the transmitted and untransmitted alleles, and the genotype relative risk. 97% power was available to detect at least a trend in favour of a factor similar to that reported for SLE.

Results: The analysis showed the absence of linkage and association globally and in “autoimmune” RA subsets, with a weak non-significant trend against the IRF5rs20046470-T allele. Given the robustness of familial-based analysis, this slight negative trend provided strong evidence against even a weaker factor than that reported for SLE.

Conclusion: Our results exclude the IRF5rs2004640-T allele as a major genetic factor for RA in this French Caucasian population.

  • AID, autoimmune disease
  • IRF5, interferon regulatory factor 5
  • RA, rheumatoid arthritis
  • RF, rheumatoid factor
  • SLE, systemic lupus erythematosus

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