Allele *2 of the HS1,2A enhancer of the Ig regulatory region associates with rheumatoid arthritis

B. Tolusso, D. Frezza, C. Mattioli, A. L. Fedele, S. Bosello, [No Value] FFaustini, G. Peluso, V. Giambra, D. Pietrapertosa, A. Morelli, E. Gremese, M. De Santis, G. F. Ferraccioli

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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% Cl 1.20 to 3.70) vs controls; LSRA: OR = 2.96 (95% Cl 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% Cl 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.

Original languageEnglish
Pages (from-to)416-419
Number of pages4
JournalAnnals of the Rheumatic Diseases
Issue number3
Publication statusPublished - Mar 2009

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)
  • Immunology
  • Immunology and Allergy
  • Rheumatology


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