El. Kaijzel et al., Polymorphism within the tumor necrosis factor alpha (TNF) promoter region in patients with ankylosing spondylitis, HUMAN IMMUN, 60(2), 1999, pp. 140-144
In addition to HLA-B27, other genetic factors are thought to be involved in
the pathogenesis of ankylosing spondylitis (AS). Because of the location o
f the TNF gene in the vicinity of the HLA-B locus, and the prominent role i
n inflammation of its produce, we investigated the association between BS a
nd two G to A transition polymorphisms located at position -238 and -376 in
the promoter region of the TNF gene. The distribution of the TNF alleles w
as determined in 86 HLA-B27+ AS patients and 163 healthy controls. From the
86 AS patients, 33 suffered from acute anterior uveitis (AAU). No signific
ant difference for the TNF-376 polymorphism in AS and healthy controls was
observed. The frequency of the TNF-238A allele in HLA-B27(+) AS patients wa
s significantly decreased compared to random controls (p = 0.021). However,
the frequency of the TNF-238A allele in HLA-B27(+) AS patients was not sig
nificantly different from chat observed in HLA-B27(+) healthy individuals (
p = 0.6). Assessment of association showed that the TNF-238G allele is in l
inkage disequilibrium with the HLA-B27 allele (Delta = 0.051; P = 0.008). T
herefore, we conclude that the association between TNF-238G and AS is secon
dary to the HLA-B27 gene and that TNF-238 and TNF-376 alleles are nor likel
y to be involved in the susceptibility to AS. Human Immunology 60, 140-144
(1999). (C) American Society for Histocompatibility and Immunogenetics, 199
9. Published by Elsevier Science Inc.