Article Text

other Versions

The systemic lupus erythematosus new genetic factor IRF5 rs2004640-T allele is not linked to, nor associated with rheumatoid arthritis, in a family-based study from the French caucasian population
  1. Sophie Garnier (garnier{at}
  1. GenHotel-EA3886, France
    1. Philippe Dieudé (philippe.dieude{at}
    1. CHU Bichat Claude Bernard, France
      1. Laëtitia Michou (laetitiami{at}
      1. Fédération de rhumatologie, Hopital Lariboisière, France
        1. Sandra Barbet (sandra{at}
        1. GenHotel-EA3886, France
          1. Alice Tan (alice{at}
          1. GenHotel-EA3886, France
            1. Sandra Lasbleiz (sandra.lasbleiz{at}
            1. Unité de Génétique Clinique, Hopital Lariboisière, France
              1. Thomas Bardin (thomas.bardin{at}
              1. Unité de Génétique Clinique, Hopital Lariboisière, France
                1. Bernard Prum (prum{at}
                1. Laboratoire Statistique et Génome, France
                  1. François Cornelis (francois.cornelis{at}
                  1. GenHotel-EA3886, France


                    Objective: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. Our aim was to test the hypothesis that this SLE IRF5 genetic factor could also be shared with RA.

                    Patients and methods: 100 French caucasian RA Trio families were genotyped and analyzed using the Transmission Disequilibrium Test (TDT), the frequency comparison of the transmitted and un-transmitted alleles, and the Genotype Relative Risk (GRR). We had a 97% power to detect at least a trend in favor of a factor similar to that reported for SLE.

                    Results:The analysis revealed the absence of linkage and association globally and in “autoimmune” RA subsets, with a weak non-significant trend against the IRF5 rs20046470-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 IRF5 rs2004640- T allele as a major RA genetic factor in this French caucasian population.

                    • autoimmunity
                    • genetics
                    • IRF5
                    • rheumatoid arthritis
                    • systemic lupus erythematosus

                    Statistics from

                    Request permissions

                    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.