Interethnic studies of TNF polymorphisms confirm the likely presence of a second MHC susceptibility locus in ankylosing spondylitis

Milicic, A., Lindheimer, F., Laval, S., Rudwaleit, M., Ackerman, H., Wordsworth, P., Hohler, T., & Brown, M. A. (2000) Interethnic studies of TNF polymorphisms confirm the likely presence of a second MHC susceptibility locus in ankylosing spondylitis. Genes and Immunity, 1(7), pp. 418-422.

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The objective of this study was to investigate TNF promoter region polymorphisms for association with susceptibility to ankylosing spondylitis (AS). The TNF -238 and -308 polymorphisms were genotyped in 306 English AS cases and 204 ethnically matched healthy B27-positive controls, and 96 southern German AS cases, 58 B27-positive and 251 B27-negative ethnically matched controls. Additionally, the TNF -376 polymorphism was genotyped in the southern German cases and controls. In the southern German AS patients a significant reduction in TNF -308.2 alleles was seen, compared with B27 positive controls (odds ratio 0.4, P= 0.03, 95% confidence interval 0.2-0.9), but no difference in allele frequencies was observed at TNF -238. Significant association between AS and both TNF -238 and TNF -308 was excluded in the English cases. These results confirm previous observations in the southern German population of association between TNF promoter region polymorphisms and AS, but the lack of association in the English population suggests that these polymorphisms themselves are unlikely to be directly involved. More likely, a second, non-HLA-B, MHC locus is involved in susceptibility to AS in these two populations.

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ID Code: 89554
Item Type: Journal Article
Refereed: Yes
Keywords: Ankylosing spondylitis, Association, TNF, primer DNA, tumor necrosis factor alpha, allele, article, case control study, ethnic group, gene frequency, gene linkage disequilibrium, genetic polymorphism, genetics, genotype, Germany, human, immunology, major histocompatibility complex, nucleotide sequence, promoter region, United Kingdom, Alleles, Base Sequence, Case-Control Studies, DNA Primers, England, Ethnic Groups, Humans, Linkage Disequilibrium, Polymorphism, Genetic, Promoter Regions (Genetics), Spondylitis, Ankylosing, Tumor Necrosis Factor-alpha
ISSN: 1466-4879
Divisions: Current > QUT Faculties and Divisions > Faculty of Health
Current > Institutes > Institute of Health and Biomedical Innovation
Copyright Owner: Copyright 2000 2000 Macmillan Publishers Ltd.
Deposited On: 27 Oct 2015 02:18
Last Modified: 27 Oct 2015 02:18

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