Allele *2 of the HS1,2A enhancer of the Ig regulatory region associates with rheumatoid arthritis
- B Tolusso1,
- D Frezza2,
- C Mattioli2,
- A L Fedele1,
- S Bosello1,
- F Faustini1,
- G Peluso1,
- V Giambra2,
- D Pietrapertosa1,
- A Morelli1,
- E Gremese1,
- M De Santis1,
- G F Ferraccioli1
- 1Division of Rheumatology, Catholic University of the Sacred Heart, Rome, Italy
- 2Department of Biology Enrico Calef, University of Tor Vergata, Rome, Italy
- Professor G F Ferraccioli, Division of Rheumatology, School of Medicine, Catholic University of the Sacred Heart, Via Moscati 31, Rome 00168, Italy;
- Accepted 30 September 2008
- Published Online First 24 October 2008
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.
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.