P2X7 1513A/C loss-of-function polymorphism and active tuberculosis disease in a cohort of Egyptian population: a pilot study

Abstract

Abstract Background Tuberculosis (TB) is a multifactorial disease, and increasing evidence shows that genetic variants in regulating genes of immune response confer susceptibility to active TB at the individual level. We aimed to identify the contribution of P2X7 receptor 1513A/C genetic polymorphisms to different clinical forms of active tuberculosis in a cohort of Egyptian population. Methods A case–control study that enrolled 25 newly diagnosed pulmonary TB (PTB) patients by positive sputum for AFB or positive culture, 25 extrapulmonary TB (EPTB) diagnosed by pathological/bacteriological/immunological studies and 25 healthy controls. A blood sample was taken before starting of therapy for P2X7 1513A/C polymorphism genotyping using PCR-restriction fragment length polymorphism. Results Fifty-two percent of the participants were in the third decade with equal gender distribution. P2X7 receptor 1513AA (homozygote wild), AC (heterozygote) and CC (homozygote mutant) genotypes were identified. AC and CC genotypes distribution were significantly more frequent in the active TB cases (either PTB or EPTB) rather than controls (p < 0.05). Further, P2X7 1513A/C genotypes’ distribution did not associate with old TB or gender (p > 0.05), but significantly associated with history of smoking (x2 trend analysis p = 0.036). Conclusions There is positive association between P2X7 receptor 1513A/C polymorphism and active tuberculosis in the Egyptians.