Contribution of the P2X7 1513A/C loss-of-function polymorphism to extrapulmonary tuberculosis susceptibility in Tunisian populations

• Published in: FEMS immunology and medical microbiology 2011-10, Vol.63 (1), p.65-72
• Main Authors: Ben-Selma, Walid, Ben-Kahla, Imen, Boukadida, Jalel, Harizi, Hedi
• Format: Article
• Language: English
• Subjects: Adolescent; Adult; Aged; Aged, 80 and over; Alleles; Blood donors; Female; Gene Frequency; Gene polymorphism; Genetic Predisposition to Disease; Genotype; Genotypes; Genotyping; Humans; Male; Middle Aged; P2X7; Polymerase chain reaction; Polymerase Chain Reaction - methods; Polymorphism; Polymorphism, Genetic; Population studies; Populations; Receptors, Purinergic P2X7 - genetics; Restriction fragment length polymorphism; susceptibility; Tuberculosis; Tuberculosis - genetics; Tuberculosis - immunology; Tunisia; Young Adult
• ISSN: 0928-8244; 1574-695X; 2049-632X
• DOI: 10.1111/j.1574-695X.2011.00824.x

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.