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Title: Tumor necrosis factor alpha - 308 gene locus promoter polymorphism: an analysis of association with health and disease
Authors: Elahi, Maqsood M.
Asotra, Kamlesh
Matata, Bashir M.
Mastana, Sarabjit S.
Keywords: Systemic inflammatory response
Inflammatory marker
Cardiovascular disease
Rheumatoid arthritis
Single nucleotide polymorphism
Issue Date: 2009
Publisher: © Elsevier B.V.
Citation: ELAHI, M.M. ... et al, 2009. Tumor necrosis factor alpha - 308 gene locus promoter polymorphism: an analysis of association with health and disease. Biochimica et Biophysica Acta, 1792 (3), pp. 163 - 172
Abstract: Tumor necrosis factor-alpha (TNF-α) is a potent immunomediator and proinflammatory cytokine that has been implicated in the pathogenesis of a large number of human diseases. The location of its gene within major histocompatibility complex and biological activities has raised the possibility that polymorphisms within this locus may contribute to the pathogenesis of wide range of autoimmune and infectious diseases. For example, a bi-allelic single nucleotide substitution of G (TNFA1 allele) with A (TNFA2 allele)} polymorphism at - 308 nucleotides upstream from the transcription initiation site in the TNF-α promoter is associated with elevated TNF-α levels and disease susceptibilities. However, it is still unclear whether TNF-α - 308 polymorphism plays a part in the disease process, in particular whether it could affect transcription factor binding and in turn influence TNF-α transcription and synthesis. Several studies have suggested that TNFA2 allele is significantly linked with the high TNF-α-producing autoimmune MHC haplotype HLA-A1, B8, DR3, with elevated serum TNF-α levels and a more severe outcome in diseases. This review discusses the genetics of the TNF-α - 308 polymorphism in selected major diseases and evaluates its common role in health and disease. © 2009 Elsevier B.V.
Description: This article is closed access. It has been published under an Elsevier User Licence and is an open archive article so is freely available from the publishers website: http://dx.doi.org/10.1016/j.bbadis.2009.01.007
Version: Published
DOI: 10.1016/j.bbadis.2009.01.007
URI: https://dspace.lboro.ac.uk/2134/15064
Publisher Link: http://dx.doi.org/10.1016/j.bbadis.2009.01.007
ISSN: 0925-4439
Appears in Collections:Closed Access (Sport, Exercise and Health Sciences)

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