Association of CYBB polymorphisms with tuberculosis susceptibility in the Chinese Han population

Liu, Qianqian; Wang, Jing; Sandford, Andrew J.; Wu, Junliang; Wang, Yu; Wu, Shouquan; Ji, Guiyi; Chen, Guo; Feng, Yu; Tao, Chuanmin; He, Jian-Qing

doi:10.1016/j.meegid.2015.04.026

Cited by 19 publications

(14 citation statements)

References 35 publications

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“…Several studies have shown that mutations in CYBB could result in X-linked chronic granulomatous disease with much higher risk of TB,32–34 which is an immunodeficiency caused by defective activity of NADPH oxidase in phagocytes 33,35. Liu et al have also demonstrated the significant correlation between CYBB polymorphisms and decreased risk of TB, particularly among male smokers 36…”

Section: Resultsmentioning

confidence: 99%

<p>The blood transcriptional signature for active and latent tuberculosis</p>

Deng¹,

Liu²,

Fang³

et al. 2019

IDR

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BackgroundAlthough the incidence of tuberculosis (TB) has dropped substantially, it still is a serious threat to human health. And in recent years, the emergence of resistant bacilli and inadequate disease control and prevention has led to a significant rise in the global TB epidemic. It is known that the cause of TB is Mycobacterium tuberculosis infection. But it is not clear why some infected patients are active while others are latent.MethodsWe analyzed the blood gene expression profiles of 69 latent TB patients and 54 active pulmonary TB patients from GEO (Transcript Expression Omnibus) database.ResultsBy applying minimal redundancy maximal relevance and incremental feature selection, we identified 24 signature genes which can predict the TB activation. The support vector machine predictor based on these 24 genes had a sensitivity of 0.907, specificity of 0.913, and accuracy of 0.911, respectively. Although they need to be validated in a large independent dataset, the biological analysis of these 24 genes showed great promise.ConclusionWe found that cytokine production was a key process during TB activation and genes like CYBB, TSPO, CD36, and STAT1 worth further investigation.

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Section: Resultsmentioning

confidence: 99%

<p>The blood transcriptional signature for active and latent tuberculosis</p>

Deng¹,

Liu²,

Fang³

et al. 2019

IDR

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“…A total of 1,216 self-identified Tibetan individuals (613 TB patients and 603 controls) in ATAPC were enrolled from the People’s Hospital of Aba Tibetan Autonomous Prefecture, located in northern Sichuan province, China, which is a Tibetan-predominant region. In addition, 1,185 Chinese Han subjects (580 TB patients and 605 controls) in CC were selected from our previous TB genetic association study conducted at the West China Hospital in Chengdu, Sichuan, China ( 20 ). The diagnosis of TB was based on the findings from Mtb, clinical symptoms, radiological evidence, and the response to anti-TB treatment, as described previously ( 20 ).…”

Section: Methodsmentioning

confidence: 99%

“…In addition, 1,185 Chinese Han subjects (580 TB patients and 605 controls) in CC were selected from our previous TB genetic association study conducted at the West China Hospital in Chengdu, Sichuan, China ( 20 ). The diagnosis of TB was based on the findings from Mtb, clinical symptoms, radiological evidence, and the response to anti-TB treatment, as described previously ( 20 ). The control groups in ATAPC and CC consisted of unrelated healthy individuals having routine-scheduled physical exams in the same region with no history of TB, who were gender and age matched to the cases.…”

Section: Methodsmentioning

confidence: 99%

Polymorphisms in Toll-Like Receptor 10 and Tuberculosis Susceptibility: Evidence from Three Independent Series

et al. 2018

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BackgroundThe toll-like receptor 2 (TLR2)-mediated immune response is critical for host defense against Mycobacterium tuberculosis. There is evidence that TLR10, a TLR2 signaling modulator, may be involved in progression of tuberculosis (TB).MethodsUsing a self-validating case–control design, we tested for an association between seven TLR10 polymorphisms and susceptibility to TB in three independent series with two distinct populations. Single-nucleotide polymorphism (SNP) genotypes were determined by the SNPscanTM method. Three genetic models (additive, dominant, and recessive) as well as multiple-SNP score analyses were used to evaluate the risk of TB associated with the TLR10 SNPs.ResultsBy comparing TB patients with healthy controls, we observed two SNPs (rs11466617 and rs4129009) that were associated with decreased risk of TB in the Tibetan population, but did not in the Chinese Han population. Further analysis demonstrated that the rs11466617 Chengdu cohort genotype served as a protective factor against the progression of latent TB infection (LTBI) to active TB under the recessive model. None of the SNPs were significantly different in comparisons of TB-uninfected people with LTBI individuals. Additionally, when the underlying four TB-associated loci were considered together in a multiple-SNP score analysis, we observed an allele dose-dependent decrease in TB risk in Tibetans.ConclusionVariants of TLR10 may show an ethnic specificity on susceptibility to TB in Tibetan individuals. rs11466617 affected the susceptibility to progress from LTBI to active TB disease, but was not associated with the establishment of LTBI after M. tuberculosis exposure. More studies are needed to verify this genetic epidemiological result and unravel the role of TLR10 SNPs in the pathogenesis of TB.

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“…Thirteen tagSNPs were selected as previously described (19), including four SNPs in TLR1 (rs4833095, rs5743557, rs5743596 and rs5743604), four in TLR6 (rs1039559, rs3775073, rs5743808 and rs5743827), two in MYD88 (rs6853, rs7744) and three in TIRAP (rs595209, rs8177375 and rs3802813). Genomic DNA was extracted from whole blood using AxyPrep genomic DNA Mini kits (Axygen, USA).…”

Section: Snp Selection and Genotypingmentioning

confidence: 99%

Association of the TLR1 variant rs5743557 with susceptibility to tuberculosis

Zhang¹,

Wang²,

Wang³

et al. 2019

J. Thorac. Dis

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Background: Toll-like receptor 1 (TLR1) and TLR6 play important roles in the innate immune response against Mycobacterium tuberculosis (M.TB) via interactions with TIR domain-containing adaptor protein (TIRAP) and myeloid differentiation primary response 88 (MYD88). The aim of this study was to investigate the relationship of TLR1, TLR6, MYD88 and TIRAP polymorphisms with susceptibility to latent tuberculosis infection (LTBI) and tuberculosis (TB). Methods: In total, 204 uninfected healthy controls (HC), 201 individuals with LTBI and 209 TB patients were enrolled. Two interferon-γ release assays were used to differentiate individuals with LTBI from uninfected controls. TagSNPs of the four genes were genotyped by the SNPscan TM Kit. The Haploview 4.2 and SHEsis software packages were combined to perform linkage disequilibrium (LD) and haplotype analyses. Multifactor dimensionality reduction (MDR) software was used to investigate genegene interaction. The Stata 12.0 software was used to perform meta-analysis of the relationship between rs5743557 and TB susceptibility. Results: The AA genotype of rs5743557 was associated with reduced TB risk (P=0.006) and the AA/GA genotypes of TLR1 rs5743604 were associated with increased TB risk (P=0.017) when the LTBI group was compared with the TB group. The frequency of TLR1 haplotype rs4833095-rs5743604 CG was significantly higher in the LTBI group than in the TB group (P=0.019877). However, only the relationship between rs5743557 and TB susceptibility remained significant after 1000-fold permutation testing (P=0.023). The meta-analysis suggested that rs5743557_A was associated with decreased TB risk in the Chinese adult population (P<0.001, OR 0.80, 95% CI: 0.72-0.88). No significant gene-gene interactions were found. Conclusions: The results of our study suggest that the tagSNP rs5743557 of TLR1 is associated with the risk of TB.

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Association of CYBB polymorphisms with tuberculosis susceptibility in the Chinese Han population

Cited by 19 publications

References 35 publications

<p>The blood transcriptional signature for active and latent tuberculosis</p>

<p>The blood transcriptional signature for active and latent tuberculosis</p>

Polymorphisms in Toll-Like Receptor 10 and Tuberculosis Susceptibility: Evidence from Three Independent Series

Association of the TLR1 variant rs5743557 with susceptibility to tuberculosis

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