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).