Abstract
BackgroundImmune- and inflammation-related genes (IIRGs) play an important role in the pathogenesis of tuberculosis (TB). However, the relationship between IIRG polymorphisms and TB risk remains unknown. In this study, the gene polymorphisms and their association with tuberculosis were determined in a Chinese population.MethodsWe performed a case-control study involving 1016 patients with TB and 507 healthy controls of Han Chinese origin. Sixty-four single-nucleotide polymorphisms (SNPs) belonging to 18 IIRGs were genotyped by the PCR-MassArray assay, and the obtained data was analyzed with χ2-test, Bonferroni correction, and unconditional logistic regression analysis.ResultsWe observed significant differences in the allele frequency of LTA rs2229094*C (P = 0.015), MBL2 rs2099902*C (P = 0.001), MBL2 rs930507*G (P = 0.004), MBL2 rs10824793*G (P = 0.004), and IL12RB1 rs2305740*G (P = 0.040) between the TB and healthy groups. Increased TB risk was identified in the rs930507 G/G genotype (Padjusted = 0.027) under a codominant genetic model as well as in the rs2099902 (C/T + C/C) vs T/T genotype (Padjusted = 0.020), rs930507 (C/G + G/G) vs C/C genotype (Padjusted = 0.027), and rs10824793 (G/A + G/G) vs A/A genotype (Padjusted = 0.017) under a dominant genetic model after Bonferroni correction in the analysis of the overall TB group rather than the TB subgroups. Furthermore, the rs10824793_rs7916582*GT and rs10824793_rs7916582*GC haplotypes were significantly associated with increased TB risk (P = 0.001, odds ratio [OR] = 1.421, 95% confidence interval [CI]: 1.152–1.753; and P = 0.018, OR = 1.364, 95% CI: 1.055–1.765, respectively). Moreover, the rs10824793_rs7916582*AT/AT or rs10824793_rs7916582*GT/GT diplotype showed a protective (P = 0.003, OR = 0.530, 95% CI: 0.349–0.805) or harmful (P = 0.009, OR = 1.396, 95% CI: 1.087–1.793) effect against the development of TB.ConclusionsThis study indicated that MBL2 polymorphisms, haplotypes, and diplotypes were associated with TB susceptibility in the Han Chinese population. Additionally, larger sample size studies are needed to further confirm these findings in the future.
Highlights
Immune- and inflammation-related genes (IIRGs) play an important role in the pathogenesis of tuberculosis (TB)
The results showed that the allele distributions of lymphotoxin A (LTA) rs2229094*C (P = 0.015), mannose-binding lectin 2 (MBL2) rs2099902*C (P = 0.001), MBL2 rs930507*G (P = 0.004), MBL2 rs10824793*G (P = 0.004), and interleukin 12 receptor beta 1 (IL12RB1) rs2305740*G (P = 0.040) were significantly different between the TB patients and healthy controls (Table 1), whereas the allele distributions of the other single-nucleotide polymorphisms (SNPs) were not
The genotypic frequencies of SNPs and their associations with TB risk When investigating the TB group, the unconditional logistic regression analysis showed that 14 SNPs of interleukin 18 receptor 1 (IL18R1), IL1A, signal transducer and activator of transcription 1 (STAT1), LTA, interferon gamma receptor 1 (IFNGR1), MBL2, vitamin D receptor (VDR), and IL12RB1 were associated with TB risk under a
Summary
Immune- and inflammation-related genes (IIRGs) play an important role in the pathogenesis of tuberculosis (TB). The gene polymorphisms and their association with tuberculosis were determined in a Chinese population. Tuberculosis (TB) is a global infectious disease in humans. It is a severe and even lethal disease and was responsible for 1.2 million deaths worldwide in 2018 [1]. The main reason worldwide TB eradication is so difficult is that smear-positive TB patients are the most important source of infection. They often transmit the TB bacterium via droplets produced by coughing, sneezing, etc. A healthy person’s chances of being infected with Mycobacterium tuberculosis depend on the number of droplets inhaled and duration as well as the individual’s immune status
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