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Tumour necrosis factor-? gene polymorphisms and Alzheimer's disease

MacGowan, Sian H.; Ford, Julia M.; Nicoll, James A.R.; Cairns, Nigel J.; Kehoe, Patrick G.; Wilcock, Gordon K.; Culpan, Doris; Griffin, W. Sue; Dewar, Deborah; Hughes, Anthony


Sian H. MacGowan

Julia M. Ford

James A.R. Nicoll

Nigel J. Cairns

Patrick G. Kehoe

Gordon K. Wilcock

Doris Culpan

W. Sue Griffin

Deborah Dewar

Anthony Hughes


Recent findings suggest that production of pro-inflammatory cytokines, such as tumour necrosis factor-alpha (TNF-α), is increased in the brains of people with Alzheimer's disease (AD). We used direct sequencing methods on a section of the enhancer/promoter region and on a smaller fragment located 10.5 kb upstream of the TNF-α gene to respectively examine TNF-α polymorphisms and TNF-a and -b microsatellite alleles in a cohort of 235 post-mortem confirmed AD and 130 control cases. None of the TNF-α point mutations or microsatellite alleles investigated proved to be independent risk factors for AD. However, when -308/A, -238/G and TNF-a2 were examined as a 2-1-2 haplotype, we observed that the absence of that haplotype was significantly associated with AD (P=0.014, Fisher's exact test) suggesting that the 2-1-2 haplotype may be protective against AD. © 2003 Elsevier Ireland Ltd. All rights reserved.


Wilcock, G. K., Kehoe, P. G., Cairns, N. J., Nicoll, J. A., Ford, J. M., MacGowan, S. H., …Hughes, A. (2003). Tumour necrosis factor-α gene polymorphisms and Alzheimer's disease. Neuroscience Letters, 350(1), 61-65.

Journal Article Type Article
Publication Date Oct 16, 2003
Journal Neuroscience Letters
Print ISSN 0304-3940
Publisher Elsevier
Peer Reviewed Not Peer Reviewed
Volume 350
Issue 1
Pages 61-65
Keywords Alzheimer's disease, tumour necrosis factor-alpha, polymorphisms
Public URL
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