Genetic polymorphisms in the <i>P2X7</i> gene and its association with susceptibility to tuberculosis

Singla, Neha; Gupta, Dheeraj; Joshi, Amit; Batra, Navneet; Singh, Jagtar

doi:10.5588/ijtld.11.0076

Cited by 39 publications

(21 citation statements)

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“…Our findings support those of Singla et al (2012) and Li et al (2002), who identified a significant protective association between TB and the -762 C allele. We found that the -762 T allele is a risk factor for PTB in our study population.…”

Section: Discussionsupporting

confidence: 82%

“…For instance, ethnic and racial differences in the vulnerability of humans to TB with respect to P2X7R polymorphisms have been reported (Li et al, 2002;Fernando et al, 2007;Nino-Moreno et al, 2007;Mokrousov et al, 2008;Xiao et al, 2009;Wang et al, 2011;Singla et al, 2012). Thus, we aimed to identify the possible association between P2X7 polymorphisms and the risk of pulmonary tuberculosis (PTB) in a sample of the Iranian population.…”

Section: +mentioning

confidence: 99%

“…This process initiates a number of downstream signaling events, such as the caspase cascade, and results in apoptosis or activation of phospholipase D, which promotes the phagosome-lysosome fusion and causes mycobacterial death (Humphreys et al, 2000;Kusner and Barton, 2001;CoutinhoSilva et al, 2003). P2X7 is highly polymorphic, with several single nucleotide polymorphisms (SNPs) that affect the function of this receptor (Wiley et al, 2003;Gu et al, 2004;Fernando et al, 2005;Shemon et al, 2006;Haas et al, 2007;Ben-Selma et al, 2011;Singla et al, 2012).…”

Section: +mentioning

confidence: 99%

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Association of P2X7 gene polymorphisms with susceptibility to pulmonary tuberculosis in Zahedan, Southeast Iran

Bahari

Hashemi²,

Taheri³

et al. 2013

Genet. Mol. Res.

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ABSTRACT. Susceptibility to tuberculosis may be influenced by variations in human genes. The P2X7 receptor is an ATP-gated cation channel expressed in immune cells, and it influences the release of proinflammatory cytokines from monocytes and macrophages. In the present study, we aimed to evaluate the impact of P2X7 gene rs2393799 (-762T/C) and rs1718119 (Thr348Ala) polymorphisms on patient susceptibility to pulmonary tuberculosis (PTB) in a sample of the Iranian population. This case-control study was performed using 150 PTB cases and 150 controls. P2X7 receptor polymorphisms were determined using tetra-amplification refractory mutation system-polymerase chain reaction. Genotype and allelic frequencies of the rs2393799 variant P2X7 gene polymorphisms in pulmonary tuberculosis within the P2X7 gene were significantly higher in the PTB patients than in the healthy controls. The genotypes were CC in 71, CT in 54, and TT in 25 PTB patients. The genotypes were CC in 104, CT in 40, and TT in 6 healthy controls. The results indicate a significant association between rs2393799 polymorphism of the P2X7 gene and susceptibility to PTB (CT vs CC: OR = 6.5, 95%CI = 2.5-16.9, P < 0.0001; TT vs CC: OR = 3.3, 95%CI = 1.2-8.9, P = 0.018; TC+TT vs CC: OR = 2.56, 95%CI = 1.59-4.12, P < 0.0001). The rs2393799 T allele is a risk factor for predisposition to PTB (OR = 2.53, 95%CI = 1.73-3.71, P < 0.0001). No association between the rs1718119 polymorphism and PTB was found. In conclusion, the rs2393799 polymorphism in the P2X7 gene may contribute to patient susceptibility to PTB in our study population.

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Section: Discussionsupporting

confidence: 82%

Section: +mentioning

confidence: 99%

Section: +mentioning

confidence: 99%

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Association of P2X7 gene polymorphisms with susceptibility to pulmonary tuberculosis in Zahedan, Southeast Iran

Bahari

Hashemi²,

Taheri³

et al. 2013

Genet. Mol. Res.

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show abstract

“…Rs2393799 was generally applied to study its correlations with pulmonary tuberculosis susceptibility in several previous studies [31], yet it was reported to be unassociated with pulmonary tuberculosis susceptibility in Asians or whites in a previous metaanalysis [34]. Our study showed that there was no significant association of rs2393799 with OP risk.…”

Section: Discussioncontrasting

confidence: 55%

“…In addition, rs2393799, a polymorphism located in the promoter region of P2X7R gene (−762 C > T), was indicated to be related with pulmonary tuberculosis susceptibility in several previous studies [31].…”

Section: Introductionmentioning

confidence: 97%

Purinergic P2X7 receptor functional genetic polymorphisms are associated with the susceptibility to osteoporosis in Chinese postmenopausal women

Gong

et al. 2017

Purinergic Signalling

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Osteoporosis (OP) is a major public health problem worldwide. Genetic factors are considered to be major contributors to the pathogenesis of OP. The purinergic P2X7 receptor (P2X7R) has been shown to play a role in the regulation of osteoblast and osteoclast activity and has been considered as an important candidate gene for OP. A case-control study was performed to investigate the associations of functional single nucleotide polymorphisms (SNPs) in the P2X7R gene (rs2393799, rs7958311, rs1718119, rs2230911, and rs3751143) with susceptibility to OP in 400 Chinese OP patients and 400 controls. Results showed that rs3751143 was associated with OP; in particular, carriers of the C allele and CC/(AC + CC) genotypes were at a higher risk of OP, but no significant association of rs2230911, rs7958311, rs1718119, and rs2393799 with OP risk was observed. Analysis of the haplotypes revealed one haplotype (rs1718119G-rs2230911G-rs3751143C) that appeared to be a significant Brisk^haplotype with OP. The rs3751143 polymorphism was associated with osteoclast apoptosis; ATP-induced caspase-1 activity of osteoclasts with AC and CC genotypes is lower than that of osteoclasts with AA genotype in vitro. The findings suggest that the P2X7R rs3751143 functional polymorphism might contribute to OP susceptibility in Chinese postmenopausal women.

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P2X7 in Bipolar and Depressive Disorders

Barron

Werry

McGregor

et al. 2013

Pathologies of Calcium Channels

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Genetic polymorphisms in the P2X7 gene and its association with susceptibility to tuberculosis

Cited by 39 publications

References 0 publications

Association of P2X7 gene polymorphisms with susceptibility to pulmonary tuberculosis in Zahedan, Southeast Iran

Association of P2X7 gene polymorphisms with susceptibility to pulmonary tuberculosis in Zahedan, Southeast Iran

Purinergic P2X7 receptor functional genetic polymorphisms are associated with the susceptibility to osteoporosis in Chinese postmenopausal women

P2X7 in Bipolar and Depressive Disorders

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