Va. Danis et al., INCREASED FREQUENCY OF THE UNCOMMON ALLELE OF A TUMOR-NECROSIS-FACTOR-ALPHA GENE POLYMORPHISM IN RHEUMATOID-ARTHRITIS AND SYSTEMIC LUPUS-ERYTHEMATOSUS, Disease markers, 12(2), 1995, pp. 127-133
The frequency of the uncommon allele (TNF2) of a polymorphism in the p
romoter region of the tumour necrosis factor alpha (TNF alpha) gene in
patients with rheumatoid arthritis (RA) and systemic lupus erythemato
sus (SLE) was found to be 3 times that of the normal anglo-saxon popul
ation. In SLE patients, this allele was strongly associated with HLA-D
R3 expression and was also more frequent in patients who did not have
malar rash. Functional studies of normal monocyte cytokine production
in vitro showed that this genotype was associated with increased IL-1
alpha protein production but there were no differences in the producti
on of TNF alpha protein.