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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.

Original publication

DOI

10.1038/sj.gene.6363701

Type

Journal article

Journal

Genes and immunity

Publication Date

10/2000

Volume

1

Pages

418 - 422

Addresses

Nuffield Orthopaedic Centre, Windmill Rd, Headington, OX3 7LD, UK.

Keywords

Humans, Spondylitis, Ankylosing, Tumor Necrosis Factor-alpha, DNA Primers, Case-Control Studies, Major Histocompatibility Complex, Base Sequence, Gene Frequency, Genotype, Linkage Disequilibrium, Polymorphism, Genetic, Alleles, Ethnic Groups, Germany, England, Promoter Regions, Genetic