evaluation of p2x7 and ifn-γ gene polymorphisms in patients with pulmonary tuberculosis using pcr-rflp method

Background and objective: One third of the world population is currently infected with Mycobacterium tuberculosis (MTB), but only between 5% and 10% of them show signs of tuberculosis (TB). Factors such as aging, drinking alcohol, and smoking can be involved in contributing to TB progress, but host genetic factors have the most important role in the progression of this disease. Cytokine polymorphisms are among the most important genetic factors influencing an individual's susceptibility and development of the disease. The present study is designed to evaluate the association of interferon-γ (IFN-γ) and p2x7 polymorphisms in pulmonary TB patients. Material and Methods: Single-nucleotide polymorphisms in IFN-γ and p2x7 genes in patients [n = 100] were analyzed and compared with controls [n = 100]. The genotypes of the above-mentioned genes were investigated by the PCR-RFLP method. Statistical analysis was performed using chi-square test to determine statistical associations between cases and controls. Results: The results indicated that there is a significant association between control and patient in IFN-γ −611 allele (p<0.05). Furthermore, there was a significant association between the two groups in p2x7 −1513 and −762 alleles (p<0.05). However, in allele 2109 of IFN-γ gene there was not any association (p > 0.05). Discussion: The presence of polymorphisms in the region-611 of IFN-γ-R1 gene and p2x7 1513/−762 alleles may increase the host susceptibility to MTB infections. Consequently, genotype determination of these special alleles can be regarded as important tools to identify infected persons at high risk of TB.