To investigate the role of C282Y and H63D mutations in HFE gene in susceptibility to rheumatoid arthritis (RA).
The distribution of C282Y and H63D mutations in patients with RA and in healthy subjects was examined by restriction endonuclease digestion of polymerase chain reaction amplified genomic DNA.
The prevalence of C282Y mutation in patients with RA was the same as in healthy controls. In contrast, the distribution of H63D mutation was significantly higher in the total RA patient population and in DRB1 QKRAA/QRRAA epitope positive patients compared to respective groups of controls. Analysis of data showed that (1) both H63D mutation and QKRAA/QRRAA DRB1 epitope are individually associated with RA susceptibility; (2) there is interaction between these 2 factors in development of RA; and (3) both these factors combined have stronger association with RA susceptibility than with these factors individually.
H63D mutation appears to play a role in pathogenesis of RA. This study is small and must be regarded as preliminary. These data therefore need confirmation from independent studies.