Abstract
Previous studies indicated that single-nucleotide polymorphisms (SNPs) of interferon gamma (IFNG) and IFNG receptor 1 (IFNGR1) may be involved in the pathogenesis of pulmonary tuberculosis (PTB) in different populations. In order to further explore the results in a Chinese Han population, this study was designed to investigate potential associations between the polymorphisms in IFNG and IFNGR1 and susceptibility to latent tuberculosis infection (LTBI) and/or PTB in a Chinese Han population. A total of 209 PTB, 173 LTBI, and 183 healthy control subjects (HCS) were enrolled in our study. Genotyping was conducted using an improved multiplex ligase detection reaction (iMLDR). We performed a logistic regression including sex and age as covariates to test the effect of alleles/genotypes on LTBI and/or TB. All six markers studied in IFNG and IFNGR1 conformed to the Hardy–Weinberg equilibrium (HWE). The IFNG rs1861494 was significantly associated with LTBI in recessive model, and the CC+CT genotype decreased risk of LTBI by 50% (P = 0.046, OR = 0.50, 95%CI: 0.25-0.99). The IFNGR1 rs2234711 was significantly associated with LTBI, and allele A increased the risk of LTBI by 55% (P = 0.047, OR = 1.55, 95%CI: 1.00-2.40). In the present study, we found that IFNG and IFNGR1 polymorphisms were associated with LTBI.
Highlights
Tuberculosis (TB) is an ancient disease and severely affects human health all over the world
We aim to investigate the association of interferon gamma (IFNG)/IFNG receptor 1 (IFNGR1) polymorphisms with healthy control subjects (HCS), latent tuberculosis infection (LTBI), and pulmonary TB (PTB)
LTBI was the control when compared with pulmonary tuberculosis (PTB), and HCS was the control when compared with LTBI
Summary
Tuberculosis (TB) is an ancient disease and severely affects human health all over the world. It was suggested that host genetic factors and M.TB itself may influence the outcome of M.TB infection [2]. Anthropological studies based on the polymorphic gene suggested that susceptibility to infectious diseases was related to genetic diversities of polymorphic genes [3]. Other factors including innate and adaptive immunity are thought to affect the progression of TB. Previous studies have revealed that several immune-related genes, including IL-1B [4], IL-6 [4], IL-8 [8], IL-12B [9], and TNF [4], may contribute to M.TB infection. The major elements of host genetic susceptibility to TB may be based on the populationbased variants in adaptive and innate immunity [10]. TB development is regulated by different immunocytes and relies on the interaction of cytokines secreted by these cells [11]
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