Lack of association of 1513 A/C polymorphism in P2X7 gene with susceptibility to pulmonary and extrapulmonary tuberculosis.

INTRODUCTION: Tuberculosis, is one of the a leading causes of death worldwide, is characterized by different clinical forms including: latent, localized pulmonary infection and extrapulmonary tuberculosis. Candidate gene association studies have implicated common polymophisms in genes that may influence the development of tuberculosis. This study, aimed to elucidate the role of P2X7 gene in 1513A/C polymorphism the etiopathogenesis of tuberculosis. MATERIALS AND METHODS: The study included 160 patients with tuberculosis (71 pulmonary and 89 extrapulmonary tuberculosis) and 160 healthy controls. Genomic DNA was isolated and 1513A/C polymorphism in P2X(7) gene was genotyped by PCR-RFLP method. RESULTS: Frequency of P2X7 AA genotype was 47.5% in controls and 56.87% in patients, AC frequency was 39.37% controls and 32.5% in patients, CC genotype was 13.12% in controls and 10.62% in patients. No significant difference in allele and genotype frequencies (1513A/C polymorphism) between tuberculosis patients and controls was found. CONCLUSION: The results suggest that 1513A/C polymorphism of P2X7 gene is not associated with pulmonary and extrapulmonary tuberculosis in the Eastern Turkey.

[Investigation of CCL1 rs159294 T/A gene polymorphism in pulmonary and extrapulmonary tuberculosis patients]. / Pulmoner ve ekstrapulmoner tüberküloz hastalarinda CCL1 rs159294 T/A gen polimorfizminin arastirilmasi

INTRODUCTION: The purpose of this study is to reveal whether CCL1 rs159294 T/A polymorphism in pulmonary and extrapulmonary tuberculosis patients pose a risk to catch tuberculosis or not. MATERIALS AND METHODS: In the study, peripheral blood samples from the control group, which includes 160 patients, who consulted to Firat University Faculty of Medicine, Pulmonology Policlinic in Elazig province and who were diagnosed with tuberculosis; and 160 healthy individuals, were taken and put into tubes containing EDTA. Each tube contained 2 cc blood samples. DNA isolation was made from these blood samples and CCL1 rs159294 T/A polymorphism was defined with PCR-RFLP analysis. RESULTS: For CCL1 rs159294 T/A polymorphism, TT genotype was found in 98 (61.3%) patients, TA genotype was found in 58 (36.3%) patients, AA genotype was found in 4 (2.5%) patients among 160 patients with tuberculosis; and TT genotype was found in 50 (70.4%) patients, TA genotype in 20 (28.2%) patients, AA genotype was found in 1 (1.4%) patient among 71 patients with pulmonary tuberculosis; TT genotype was found in 48 (53.9%) patients TA genotype was found in 38 (42.7%) patients and AA genotype was found in 3 (3.4%) patients among 89 extrapulmonary tuberculosis patients. And in control group, among 160 healthy individuals, TT genotype was found in 100 (62.5%) individuals, TA genotype was found in 58 (36.3%) individuals, AA genotype was found in 2 (1.3%) individuals and no statistically significant difference was found. CONCLUSION: CCL1 rs159294 T/A polymorphism do not form an inclination to tuberculosis in our population.