Abstract
BackgroundTuberculosis (TB) is a contagious disease affected by multiple genetic and environmental factors. Several association studies have suggested that cellular immune response is vital for controlling and preventing of tuberculosis infection. Low molecular weight polypeptides (LMPs) and transporters with antigen processing (TAPs) are the main molecules in the processing and presentation pathway for intracellular antigens. This study was performed to elucidate whether these antigen-processing genes (LMP/TAP) polymorphisms could be associated with the risk of tuberculosis infection in China.Methodology/Principal FindingsWe recruited 205 active pulmonary tuberculosis patients and 217 normal controls from Li population for this study. Four polymorphisms of LMP/TAP genes were determined by PCR-RFLP assay and haplotypes were constructed by software PHASE 1.0. Of the total four polymorphisms, genotype frequencies of LMP7 AA homozygote and CA heterozygote were significantly greater among cases compared to controls, with odds ratio of 3.77 (95% CI: 1.60–8.89; P = 0.002) and 2.97 (95% CI: 1.80–4.90; P<0.0001), respectively. The genotypes of TAP1-2 GG homozygote and AG heterozygote were more frequent in subjects with TB than in controls, with odds ratio of 3.94 (95% CI: 1.82–8.53; P = 0.001) and 2.87 (95% CI: 1.75–4.71; P<0.0001), respectively. Similarly, we found that haplotype B which carried LMP7 and TAP1-2 variations significantly increased the susceptibility to TB (OR = 3.674, 95% CI: 2.254–5.988; P<0.0001). Moreover, it is noteworthy that the homozygote of wild haplotype A (A/A) may be a strong protection for TB infection.ConclusionsOur findings suggested that LMP/TAP gene polymorphisms might be risk factors for TB infection among Li population in China.
Highlights
Tuberculosis (TB), the leading cause of morbidity and mortality by a single infectious agent, is still a major health problem in the world
Our findings suggested that Low molecular weight polypeptides (LMPs)/transporters with antigen processing (TAPs) gene polymorphisms might be risk factors for TB infection among Li population in China
The aim of this study was to investigate the associations between polymorphisms of LMP and TAP genes and susceptibility to active TB disease in Li population in Hainan province, an island of southern China in the South China Sea
Summary
Tuberculosis (TB), the leading cause of morbidity and mortality by a single infectious agent, is still a major health problem in the world. Many studies have shown evidence of association between host genetic polymorphisms and TB susceptibility, including CCL2/MCP-1, NRAMP1/SLC11A1, IRGM1, IL8, TLR, and NOD2 genes [4]–[][][][][9]. Most of these genes participate in immune response and their polymorphisms may lead to increase genetic susceptibility to TB. Several association studies have suggested that cellular immune response is vital for controlling and preventing of tuberculosis infection. This study was performed to elucidate whether these antigen-processing genes (LMP/TAP) polymorphisms could be associated with the risk of tuberculosis infection in China
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