Association of TNF-α polymorphisms in Crohn disease
Clinical and molecular studies implicate tumor necrosis factor alpha (TNF-α) as a key mediator in the initiation and propagation of Crohn disease (CD). Genetic associations have been documented between promoter polymorphisms of TNF-α and CD; however, these associations have not been universally repl...
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Published in | Human immunology Vol. 66; no. 1; pp. 56 - 59 |
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Main Authors | , , , , |
Format | Journal Article |
Language | English |
Published |
United States
Elsevier Inc
2005
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Subjects | |
Online Access | Get full text |
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Summary: | Clinical and molecular studies implicate tumor necrosis factor alpha (TNF-α) as a key mediator in the initiation and propagation of Crohn disease (CD). Genetic associations have been documented between promoter polymorphisms of TNF-α and CD; however, these associations have not been universally replicated. In this study, we set out to examine the association of five promoter TNF-α polymorphisms in CD subjects from a founder population. In total, 128 CD subjects and 103 ethnically matched healthy controls were genotyped with time-of-flight mass spectrometry for the following five single nucleotide polymorphisms (SNPs) in the 5′ flanking region of TNF-α gene: -1031 (T→C), -863 (C→A), -857 (C→T), -308 (G→A), and -238 (G→A). Primer sequences, termination mixes, and multiplexing were determined with Sequenom SpectroDESIGNER software v1.3.4. The minor allele frequency for the TNF-α SNPs in subjects with CD and healthy controls, respectively, were -238 (5.5% vs. 5.3%); -308 (17.6% vs. 18.9%); -857 (5.1% vs. 7.8%); -863 (19.1% vs. 17.5%), and -1031 (24.6% vs. 22.8%). Thus, none of the TNF-α variants was associated with CD. Furthermore, no genotype/phenotype correlations were observed for the mutant allele of the TNF-α variants and selected clinical outcomes. In conclusion, there was no significant association for any of the TNF-α promoter polymorphism tested and CD in the Newfoundland population. |
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Bibliography: | ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 |
ISSN: | 0198-8859 1879-1166 |
DOI: | 10.1016/j.humimm.2004.10.004 |