title: Prevalence of C282Y mutation in patients with rheumatoid arthritis and spondylarthritis.
abstract: Rheumatoid arthritis is an inflammatory joint and systemic disease believed to be of autoimmune origin. Predisposing factors also include genetic factors, such as the presence of alleles HLA-DRB1 *04, (HLA-DRB1 *0401, *0404, *0405 and *0408) and, in other ethnic groups, of subtypes DRB1 *0101, *0102 and DRB1 *1001. These genetic factors are believed to raise the risk of developing the disease. In rheumatoid arthritis, as in other chronic inflammatory diseases, iron metabolism dysfunction has been observed and attributed to inflammation. In hereditary hemochromatosis, tissue sideropexia is associated with a peculiar form of arthropathy. C282Y is a point mutation involving the replacement of a cysteine with a tyrosine at position 282 of the HFE protein. When found in homozygosis, there is a close association with hereditary hemochromatosis, accounting for one of the causes of iron metabolism dysfunction observed in this disease. The aim of this study was to compare the frequency of C282Y in patients with rheumatoid arthritis with that in patients with different forms of spondylarthritis and to correlate these findings with iron metabolism parameters. In the group of patients with rheumatoid arthritis, 2/24 (8.34%) were found to be positive for the C282Y mutation in the case of heterozygosis compared with 3/24 (12.5%) of patients with spondylarthritis. In patients with the C282Y mutation, ferritin levels were significantly higher than those in controls; conversely, serum iron levels were higher in patients with spondylarthritis. Serum transferrin levels, although slightly higher in rheumatoid arthritis patients, showed no statistically significant differences.
authors.affiliation: DISEM, Department of Rheumatology, E. Burzzone Rheumatology Center, University of Genova, Italy. bruzzone@unige.i
authors.forename: G
authors.initials: G
authors.lastname: Rovetta
authors.forename: M C
authors.initials: MC
authors.lastname: Grignolo
authors.forename: L
authors.initials: L
authors.lastname: Buffrini
authors.forename: P
authors.initials: P
authors.lastname: Monteforte
mesh_terms: D001172:Arthritis, Rheumatoid / Q000097:blood / Q000235:genetics* / Q000503:physiopathology; D004247:DNA / Q000032:analysis; D004252:DNA Mutational Analysis; D005260:Female; D005293:Ferritins / Q000097:blood; D000071020:Hemochromatosis Protein; D006579:Heterozygote; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D013167:Spondylitis, Ankylosing / Q000097:blood / Q000235:genetics* / Q000503:physiopathology
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D004247:DNA; D005293:Ferritins