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

作者：Tolusso B; Frezza D; Mattioli C; Fedele A L; Bosello S; Faustini F; Peluso G; Giambra V; Pietrapertosa D; Morelli A; Gremese E; De Santis M; Ferraccioli G F^*

来源：Annals of the Rheumatic Diseases, 2009, 68(3): 416-419.

DOI：10.1136/ard.2008.095414

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.

• 出版日期2009-3