Purpose
Tuberculosis (TB) is known to result from a complex interaction between the host immune response and
Mycobacterium
infection. The transporter associated with antigen processing (TAP) plays an important role in the processing and presentation pathways for the
Mycobacterium tuberculosis
(
M. tb
) antigen. To investigate the possible association of the
TAP1
and
TAP2
genes with TB.
Patients and Methods
A total of 449 TB patients and 435 control subjects were included in this study, and single nucleotide polymorphisms (SNPs) in the
TAP
gene, as well as
TAP1
and
TAP2
alleles, were genotyped.
Results
TAP
gene association analysis of TB diseases showed that rs41551515-T in the
TAP1
gene was significantly associated with susceptibility to TB (
P
=7.96E-04, OR=4.124, 95% CI: 1.683–10.102), especially pulmonary TB (PTB,
P
=6.84E-04, OR=4.350, 95% CI: 1.727–10.945), and the combination of rs1057141-T-rs1135216-C in the
TAP1
gene significantly increased the risk of TB susceptibility (
P
=5.51E-05, OR=10.899, 95% CI: 2.555–46.493). Five novel
TAP1
alleles were detected in Yunnan Han people, and the allele frequency of
TAP1*unknown_3
(rs41555220-rs41549617-rs1057141-rs1135216-rs1057149-rs41551515: C-A-T-C-C-T) was notably increased in all TB patients, including in the PTB and EPTB subgroups, and was significantly associated with the risk of susceptibility to TB. However, no association between the
TAP2
gene and TB was found in this study.
Conclusion
Host genetic variants of rs41551515-T and the combination rs1057141-T-rs1135216-C, as well as
TAP1*unknown_3
may play a critical role in susceptibility to TB disease.