Objective: HLA-B27 is strongly associated with ankylosing spondylitis (AS);
however, the association is not absolute and additional susceptibility fac
tors in the MHC region could play a role. We studied the influence of polym
orphism in the transporter associated with antigen processing (IAP) genes,
including point mutations not previously analyzed. Methods: HLA-B*27 typing
and subtyping as well as TAP1 and TAP2 typing were performed by PCR-RFLP.
Forty-four AS individuals were compared to 61 ethnically matched random ind
ividuals and 35 B*27-positive healthy unrelated individuals as controls. Re
sults: The frequency of the TAP1B allele was significantly greater in the p
atient group compared with the random controls (corrected p value (p(c)) =
0.035; odds ratio = 15.8, p = 0.01). A greater frequency was also evident w
hen B*27-positive patients and B*27-positive healthy controls were compared
, although it did not reach statistical significance. No differences were o
bserved in TAP2 alleles between the groups studied. Discussion: We did not
find a primary association between TAP2 polymorphism and AS susceptibility.
Formal confirmation of a linkage between the TAP and HLA-B loci would prob
ably require family studies. Copyright (C) 2000 S. Karger AG, Basel.