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Allele *2 of the HS1,2A enhancer of the Ig regulatory region associates with rheumatoid arthritis
  1. B Tolusso1,
  2. D Frezza2,
  3. C Mattioli2,
  4. A L Fedele1,
  5. S Bosello1,
  6. F Faustini1,
  7. G Peluso1,
  8. V Giambra2,
  9. D Pietrapertosa1,
  10. A Morelli1,
  11. E Gremese1,
  12. M De Santis1,
  13. G F Ferraccioli1
  1. 1
    Division of Rheumatology, Catholic University of the Sacred Heart, Rome, Italy
  2. 2
    Department of Biology Enrico Calef, University of Tor Vergata, Rome, Italy
  1. Professor G F Ferraccioli, Division of Rheumatology, School of Medicine, Catholic University of the Sacred Heart, Via Moscati 31, Rome 00168, Italy; gf.ferraccioli{at}


Objective: To investigate the role of the HS1,2 enhancer polymorphisms as a new 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 patients with RA (100 with early RA (ERA) and 114 with longstanding RA (LSRA)) and from 248 gender-matched controls from the same geographical area. Clinical and immunological characteristics were recorded for all the patients.

Results: The percentage of the 2/2 genotype was higher in patients with ERA (27.0%), and in patients with LSRA (34.2%), than in controls (14.9%) (ERA: OR = 2.11 (95% CI 1.20 to 3.70) vs controls; LSRA: OR = 2.96 (95% CI 1.76 to 5.00) vs controls). A lower representation of allele *3 was present in patients with ERA (2.0%) than in controls (6.0%; OR = 0.32 (95% CI 0.11 to 0.91)). No significant associations were found between polymorphisms and autoantibodies positivity.

Conclusion: The HS1,2A allele *2 associates with early and longstanding RA.

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  • Competing interests: None.

  • Funding: This research was supported by the funding of the Catholic University of Sacred Heart of Rome and University of Tor Vergata, Rome (MIUR PRIN N.20073RH73W_003).

  • Ethics approval: Ethics committee approval obtained.

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