title: Contribution of the P2X7 1513A/C loss-of-function polymorphism to extrapulmonary tuberculosis susceptibility in Tunisian populations.
abstract: The P2X7 receptor has been found to be linked to an increased risk for tuberculosis in some populations. In this study, we investigate whether the P2X7 receptor plays a role in increasing susceptibility to tuberculosis in Tunisia. We examined two 1513A/C and -762T/C polymorphisms at the P2X7 receptor in 168 patients with pulmonary TB (pTB), 55 patients with extrapulmonary TB (epTB) and 150 blood donors from Tunisia. Genotyping of 1513A/C and -762T/C polymorphisms was performed in purified genomic DNA using PCR-restriction fragment length polymorphism and allele-specific PCR, respectively. The 1513C, CC and AC loss-of-function allele and genotypes were overrepresented in the epTB group compared with the control group (45% vs. 17%, P=10(-8) ; 24% vs. 4%, P=3 × 10(-7) ; 42% vs. 27%, P=10(-3) , respectively). Additionally, they were associated with 3.83-, 11.86- and 3.15-fold risks of developing this clinical tuberculosis form, respectively. No associations between the -762T/C polymorphism and tuberculosis disease, as well as disease anatomic location were observed. Collectively, our results suggest that the P2X7 1513A/C loss-of-function polymorphism may contribute to susceptibility to epTB in Tunisian populations.
authors.affiliation: Laboratory of Microbiology and Immunology, UR02SP13, Farhat Hached University Hospital, Sousse, Tunisia. wbenselma@hotmail.com
authors.forename: Walid
authors.initials: W
authors.lastname: Ben-Selma
authors.forename: Imen
authors.initials: I
authors.lastname: Ben-Kahla
authors.forename: Jalel
authors.initials: J
authors.lastname: Boukadida
authors.forename: Hedi
authors.initials: H
authors.lastname: Harizi
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction / Q000379:methods; D011110:Polymorphism, Genetic; D058486:Receptors, Purinergic P2X7 / Q000235:genetics*; D014376:Tuberculosis / Q000235:genetics* / Q000276:immunology; D014416:Tunisia; D055815:Young Adult
chemical_list: D058486:Receptors, Purinergic P2X7