Association of P2X7 gene common polymorphisms with pulmonary tuberculosis in Lur population of Iran

Amiri, Ali; Sabooteh, Toomaj; Ahmadi, Seyyed Amir Yasin; Azargoon, Alireza; Shahsavar, Farhad

doi:10.1016/j.ejmhg.2017.12.002

Cited by 8 publications

(6 citation statements)

References 27 publications

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“…[21] Also, studies on the role of rs3397 in susceptibility to tuberculosis yielded inconsistent results. [22][23][24] In one study in RA patients, an rs3397 variant was associated with a risk of RA but this study failed to provide evidence regarding the role of rs3397 in the response to TNFi. [25] Thus, most studies of rs3397 showed contradictory and inconclusive results across different populations.…”

Section: Discussionmentioning

confidence: 93%

Association of RETN and TNFRSF1B polymorphisms with TNF-α inhibitor response in rheumatoid arthritis patients

Trinh¹,

Kim²,

Kang³

et al. 2020

Preprint

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Background: Despite the improvement from the introduction of tumor necrosis factor inhibitors (TNFi) in the rheumatoid arthritis (RA), TNFi therapy fails for more than 30% or results in a partial response. Thus, we aimed to explore treatment marker by examining the association of single nucleotide polymorphisms (SNPs) with response to TNFi therapy.Method: Genes associated with RA or RA treatment were reviewed and fourteen SNPs with minor allele frequency ≥ 20% in the East Asian populations were selected and analyzed. Data were collected from 105 RA patients. Our primary endpoint was the disease activity score using 28-joint count after six months of treatment (DAS28-6month). The secondary outcomes were the subcomponents of DAS28.Results: A total of 88 patients were included in the final analyses. Among the 14 SNPs analyzed, one SNP showed statistical significance in DAS28-6month: patients with the GG allele of RETN rs1862513 had a 4.7 times higher chance of low disease activity at 6-months than GC or CC-carriers (p = 0.033), as indicated by multivariable logistic regression analysis. Rs3397 was marginally significant in univariate analysis (p=0.059), but was significant in the multivariable model (p=0.041). The final model explained 24.5% (Nagelkerke R2) of the variance in DAS28-6month.Conclusion: Our results demonstrated that, among the genes related to RA, SNPs in RETN and TNFRSF1B were associated with the response of TNFi treatment.

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Section: Discussionmentioning

confidence: 93%

Association of RETN and TNFRSF1B polymorphisms with TNF-α inhibitor response in rheumatoid arthritis patients

Trinh¹,

Kim²,

Kang³

et al. 2020

Preprint

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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%

“…Another LOF polymorphism is rs2393799 (−762 C > T), which is located in the promoter of P2X7 and decrease the expression of P2X7R. The relationship between the rs2393799 polymorphism and susceptibility to TB is still debated [12,13,14,17,18,19,21,23,27,28,29,31,32,33,34], and pooled analysis of all available data did not support an association between this variant and susceptibility to TB. The rs208294 (489 C > T; His155Tyr) is GOF polymorphism.…”

Section: Discussionmentioning

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%

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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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“…Functional loss polymorphisms lead not only to the reduction of P2X7 function but also to the impairment of ATP-induced mycobacterial death inside macrophages (Sun et al, 2010). This polymorphism was associated with susceptibility to tuberculosis in a cohort study of a Chinese population (Wu et al, 2015) and an Iran population (Amiri et al, 2018), in addition to other diseases, such as chronic Q fever (Jansen et al, 2019) and osteoporosis in postmenopausal women (Xu et al, 2017;Wang et al, 2018).…”

Section: Introductionmentioning

confidence: 99%

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Association of P2X7 gene common polymorphisms with pulmonary tuberculosis in Lur population of Iran

Cited by 8 publications

References 27 publications

Association of RETN and TNFRSF1B polymorphisms with TNF-α inhibitor response in rheumatoid arthritis patients

Association of RETN and TNFRSF1B polymorphisms with TNF-α inhibitor response in rheumatoid arthritis patients

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

Table_1.XLSX

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