title: Association of P2X7 gene polymorphisms with susceptibility to pulmonary tuberculosis in Zahedan, Southeast Iran.
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 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.
authors: Research Center for Infectious Diseases and Tropical Medicine, Zahedan University of Medical Sciences, Zahedan, Iran.
authors: G
authors: G
authors: Bahari
authors: M
authors: M
authors: Hashemi
authors: M
authors: M
authors: Taheri
authors: M
authors: M
authors: Naderi
authors: A
authors: A
authors: Moazeni-Roodi
authors: H R
authors: HR
authors: Kouhpayeh
authors: E
authors: E
authors: Eskandari-Nasab
mesh_terms: D000483:Alleles; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007492:Iran; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D058486:Receptors, Purinergic P2X7 / Q000235:genetics*; D012307:Risk Factors; D014397:Tuberculosis, Pulmonary / Q000235:genetics*
chemical_list: D058486:Receptors, Purinergic P2X7