12d8b008-fae3-4864-9c41-2c895b0a9b9f
title
Is there a future for  TNF  promoter polymorphisms?
bec64891-6f01-4367-80cb-9ac857ddcc8b
abstract
The in vitro study of  TNF  promoter polymorphism (SNP) function was stimulated by the numerous case-control (association) studies of the polymorphisms in relation to human disease and the appearance of several studies claiming to show a functional role for these SNPs provided a further impetus to researchers interested in the role of  TNF  in their disease of interest. In this review we consider case-control studies, concentrating on the autoimmune and inflammatory diseases rheumatoid arthritis, multiple sclerosis, ankylosing spondylitis, and asthma, and on infectious diseases including malaria, hepatitis B and C infection, leprosy and sepsis/septic shock. We also review the available evidence on the functional role of the various  TNF  promoter polymorphisms. In general, case-control studies have produced mixed results, with little consensus in most cases on whether any  TNF  polymorphisms are actually associated with disease, although results have been more consistent in the case of infectious diseases, particularly malaria. Functional studies have also produced mixed results but recent work suggests that the much studied  -308G/A  polymorphism is not functional, while the function of other  TNF  polymorphisms remains controversial. Studies of the  TNF  region are increasingly using extended haplotypes that can better capture the variation of the MHC region.