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Allele *2 of the HS1,2A enhancer of the Ig regulatory region associates with Rheumatoid Arthritis.
  1. B Tolusso (barbara.tolusso{at}rm.unicatt.it)
  1. Division of Rheumatology, Catholic University of the Sacred Heart, Italy
    1. D Frezza (frezza{at}uniroma2.it)
    1. Department of Biology Enrico Calef, University of Tor Vergata, Italy
      1. C Mattioli
      1. Department of Biology Enrico Calef, University of Tor Vergata, Italy
        1. AL Fedele
        1. Division of Rheumatology, Catholic University of the Sacred Heart, Italy
          1. S Bosello
          1. Division of Rheumatology, Catholic University of the Sacred Heart, Italy
            1. F Faustini
            1. Division of Rheumatology, Catholic University of the Sacred Heart, Italy
              1. G Peluso
              1. Division of Rheumatology, Catholic University of the Sacred Heart, Italy
                1. V Giambra
                1. Department of Biology Enrico Calef, University of Tor Vergata, Italy
                  1. D Pietrapertosa
                  1. Division of Rheumatology, Catholic University of the Sacred Heart, Italy
                    1. A Morelli
                    1. Division of Rheumatology, Catholic University of the Sacred Heart, Italy
                      1. E Gremese
                      1. Division of Rheumatology, Catholic University of the Sacred Heart, Italy
                        1. M De Santis
                        1. Division of Rheumatology, Catholic University of the Sacred Heart, Italy
                          1. GF Ferraccioli (gf.ferraccioli{at}rm.unicatt.it)
                          1. Division of Rheumatology, Catholic University of the Sacred Heart, Italy

                            Abstract

                            Objective: To investigate the role of the HS1,2 enhancer polymorphisms as a novel candidate marker for rheumatoid arthritis (RA) and to define the possible association with autoantibody positivity and clinical outcome.

                            Methods: Genomic DNA was obtained from two cohorts of RA patients (100 patients with an early RA-ERA and 114 patients with long standing RA-LSRA) and from 248 gender matched controls from the same geographic area. Clinical and immunological characteristics were recorded for all the patients.

                            Results: The percentage of the 2/2 genotype was higher in ERA patients (27.0%), as well as in LSRA patients (34.2%), than in the control group (14.9%) (ERA OR=2.11, 95%CIs: [1.20-3.70] vs controls, LSRA OR=2.97, C.I.95%: [1.76-5.00] vs controls). A lower representation of allele*3 was present in ERA patients (2.0%) when compared to the controls (6.0%; OR=0.32, C.I.95%: [0.11-0.91]). No significant associations were found between polymorphisms and autoantibodies positivity (Anti-CCP, IgM-RF and IgA-RF).

                            Conclusion: The HS1,2A allele*2 associates with RA (either in ERA as well as in LSRA).

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