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Is there a future for TNF promoter polymorphisms?

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.

More information

Type
Journal Article
Author
Bayley J-P
Ottenhoff T H M
Verweij C L
Year of Publication
2004
Journal
Genes and immunity
Volume
5
Issue
5
Number of Pages
315-29
Date Published
2004 Aug
Language
eng
ISSN Number
1466-4879
Call Number
BAYLEY 2004
DOI
10.1038/sj.gene.6364055
Alternate Journal
Genes Immun.
Publication Language
eng

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