S. Dalfonso et al., ASSOCIATION BETWEEN POLYMORPHISMS IN THE TNF REGION AND SYSTEMIC LUPUS-ERYTHEMATOSUS IN THE ITALIAN POPULATION, Tissue antigens, 47(6), 1996, pp. 551-555
The purpose of this work was to test the hypothesis that MHC encoded s
usceptibility factors for SLE lie in the TNF region. An association st
udy was performed by analyzing 123 northern Italian SLE patients and 1
99 matched controls for three TNF markers: two polymorphisms in the TN
FA promoter and the TNFa microsatellite. Haplotypic combinations of TN
F markers were also compared in patients and controls. No significant
association was observed considering either the whole SLE panel or SLE
clinical and immunological subtypes. Three TNF-238/A homozygous patie
nts were detected, while no homozygote was present in controls. The cl
inical and immunological phenotype of the three -238/A homozygotes sug
gests that the -238/AA genotype is a marker of a particular clinical s
ubtype.