P2X7R Gene Polymorphisms are Associated with Increased Risk of Pulmonary Tuberculosis in the Tibetan Chinese Population

Zhu, Xikai; Guo, Wen; Ren, Guoxia; He, Xue; Hu, Qunying; Yuan, Zhaonian; Kang, Longli; Yuan, Dongya; Jin, Tianbo

doi:10.4269/ajtmh.16-0056

Cited by 8 publications

(5 citation statements)

References 27 publications

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“…Identifying genetic vulnerabilities among populations can be very important for medical management (6, 35). For example, the identification of a P2X7R polymorphism has been associated with an increased risk of tuberculosis in mice (36) and later a Tibetan Chinese population (37). Further studies have suggested new therapeutic avenues through the use of natural agonists to P2X7R that promote death of Mycobacterium tuberculosis and apoptosis of infected monocytes and macrophages (38).…”

Section: A High Burden Of Disease Among Indigenous Populations In Thementioning

confidence: 99%

Health Challenges of the Pacific Region: Insights From History, Geography, Social Determinants, Genetics, and the Microbiome

et al. 2019

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The Pacific region, also referred to as Oceania, is a geographically widespread region populated by people of diverse cultures and ethnicities. Indigenous people in the region (Melanesians, Polynesians, Micronesians, Papuans, and Indigenous Australians) are over-represented on national, regional, and global scales for the burden of infectious and non-communicable diseases. Although social and environmental factors such as poverty, education, and access to health-care are assumed to be major drivers of this disease burden, there is also developing evidence that genetic and microbiotic factors should also be considered. To date, studies investigating genetic and/or microbiotic links with vulnerabilities to infectious and non-communicable diseases have mostly focused on populations in Europe, Asia, and USA, with uncertain associations for other populations such as indigenous communities in Oceania. Recent developments in personalized medicine have shown that identifying ethnicity-linked genetic vulnerabilities can be important for medical management. Although our understanding of the impacts of the gut microbiome on health is still in the early stages, it is likely that equivalent vulnerabilities will also be identified through the interaction between gut microbiome composition and function with pathogens and the host immune system. As rapid economic, dietary, and cultural changes occur throughout Oceania it becomes increasingly important that further research is conducted within indigenous populations to address the double burden of high rates of infectious diseases and rapidly rising non-communicable diseases so that comprehensive development goals can be planned. In this article, we review the current knowledge on the impact of nutrition, genetics, and the gut microbiome on infectious diseases in indigenous people of the Pacific region.

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Section: A High Burden Of Disease Among Indigenous Populations In Thementioning

confidence: 99%

Health Challenges of the Pacific Region: Insights From History, Geography, Social Determinants, Genetics, and the Microbiome

et al. 2019

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“…Through a comprehensive literature search and selection based on the inclusion criteria, 59 relevant case-control studies from 24 selected articles [12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35] were included in the pooled analysis. There were 30 studies with 5247 cases and 7614 controls on rs3751143 (1513A > C), 19 studies with 3235 cases and 4685 controls on rs2393799 (−762 C > T), 3 studies with 2185 cases and 2107 controls on rs1718119 (Thr348Ala), 3 studies with 1994 cases and 2037 controls on rs208294 (His155Tyr), 2 studies with 2000 cases and 2006 controls on rs7958311, 2 studies with 1853 cases and 1797 controls on rs2230911 included into meta-analysis.…”

Section: Resultsmentioning

confidence: 99%

“…Several single nucleotide polymorphisms (SNPs) have been revealed that affect the function of this receptor which cause P2X7R loss-of-function (LOF) or gain-of-function (GOF) [8]. Many studies have inspected the association between P2X7 polymorphisms and risk of tuberculosis in various populations, but the findings were inconsistent [12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35]. So we conducted an updated meta-analysis of all available eligible case-control studies published to date, focusing on the association between P2X7 polymorphisms and tuberculosis risk.…”

Section: Introductionmentioning

confidence: 99%

Association between P2X7 Polymorphisms and Susceptibility to Tuberculosis: An Updated Meta-Analysis of Case-Control Studies

et al. 2019

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Background and Objectives: Several studies inspected the impact of P2X7 polymorphisms on individual susceptibility to tuberculosis (TB), but the findings are still controversial and inconclusive. To achieve a more precise estimation, we conducted a meta-analysis of all eligible studies on the association between P2X7 polymorphisms and TB risk. Materials and Methods: Relevant studies were identified by searching the PubMed, Web of Science, Scopus and Google scholar databases up to November 2018. Twenty-four full-text articles were included in our meta-analysis. The strength of association between P2X7 polymorphisms and TB risk was evaluated by odds ratios (ORs) and 95% confidence intervals (95% CIs) under five genetic models. Results: The findings of this meta-analysis revealed that the rs3751143 variant significantly increased the risk of TB in heterozygous codominant (OR = 1.44, 95%CI = 1.17−1.78, p = 0.0006, AC vs. AA), homozygous codominant (OR = 1.87, 95% CI = 1.40−2.49, p = 0.0004, CC vs. AA), dominant (OR = 1.50, 95% CI = 1.22−1.85, p = 0.0002, AC + CC vs. AA), recessive (OR = 1.61, 95% CI = 1.25−2.07, p = 0.001, CC vs. AC + AA), and allele (OR = 1.41, 95% CI = 1.19−1.67, p < 0.0001, C vs. A) genetic models. Stratified analysis showed that rs3751143 increased the risk of pulmonary tuberculosis (PTB) and extrapulmonary tuberculosis (EPTB) in all genetic models. Furthermore, the rs3751143 increased risk of TB in the Asian population. The findings did not support an association between the rs2393799, rs1718119, rs208294, rs7958311, and rs2230911 polymorphisms of P2X7 and TB risk. Conclusions: The findings of this meta-analysis suggest that P2X7 rs3751143 polymorphism may play a role in susceptibility to TB in the Asian population. More well-designed studies are required to elucidate the exact role of P2X7 polymorphisms on TB development.

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“…In patients with tuberculosis, survival analysis suggested a weak association between rs7958311 polymorphism and treatment outcome, where each additional A allele of rs7958311 contributed to 59% increase in the probability of successful treatment outcome 18. In contrast, the A allele of rs7958311 was associated with an increased risk of pulmonary tuberculosis 19. Therefore, the role of rs7958311 variant in the functional mutation involving partial loss of P2 X 7 R pore function needs to be explored.…”

Section: Discussionmentioning

confidence: 99%

Genetic variation of rs7958311 inP2X7Rgene is associated with the susceptibility and disease activity of ankylosing spondylitis

Pan

Zhang

et al. 2019

Postgraduate Medical Journal

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ObjectivesTo describe association between the genetic variation of inflammation-associated gene, P2X7R, and ankylosing spondylitis (AS) susceptibility.MethodsFour single nucleotide polymorphisms (SNPs) of P2 X 7 R gene were genotyped in 673 patients with AS and 687 healthy controls. Allele and genotype frequencies and different genetic models were performed to calculate ORs and 95% CIs, the demographic and clinical characteristics of patients were recorded. The data analyses were also conducted by sex.ResultsCompared with controls, genetic variation in rs7958311 but not the other three SNPs was statistically significant in female patients (χ2=6.907, p=0.032). Specifically, the P2 X 7 R gene rs7958311 polymorphism A allele showed a protective effect in AS susceptibility (OR=0.704, p=0.049, pFDR=0.061). In addition, female individuals with GA and/or AA genotypes had a lower risk of having AS compared with those with GG genotype (GA vs GG: OR=0.446, p=0.012, pFDR=0.030; AA vs GG: OR=0.440, p=0.039, pFDR=0.061; GA/AA vs GG: OR=0.445, p=0.009, pFDR=0.030). Furthermore, individuals with A allele (ie, GA/AA vs GG) had a higher disease activity, including Bath Ankylosing Spondylitis Disease Activity Index (overall: Z=− 2.630, p=0.014; male: Z=− 2.243, p=0.025), Schober test (overall: Z=− 3.041, p<0.001; male: Z=− 2.243, p=0.025) and chest expansion (overall: Z=− 3.895, p=0.004; male: Z=− 2.403, p=0.016).ConclusionThe allelic variation of rs7958311 SNP in P2X7R gene may have a protective effect on AS susceptibility in females and is associated with disease activity in male patients.

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P2X7R Gene Polymorphisms are Associated with Increased Risk of Pulmonary Tuberculosis in the Tibetan Chinese Population

Cited by 8 publications

References 27 publications

Health Challenges of the Pacific Region: Insights From History, Geography, Social Determinants, Genetics, and the Microbiome

Health Challenges of the Pacific Region: Insights From History, Geography, Social Determinants, Genetics, and the Microbiome

Association between P2X7 Polymorphisms and Susceptibility to Tuberculosis: An Updated Meta-Analysis of Case-Control Studies

Genetic variation of rs7958311 inP2X7Rgene is associated with the susceptibility and disease activity of ankylosing spondylitis

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