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Free Content Genetic polymorphisms in the P2X7 gene and its association with susceptibility to tuberculosis

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BACKGROUND: Several studies have reported the influence of genetic variations on susceptibility to tuberculosis (TB). Polymorphism in P2X7 gene coding for P2X7 receptor present on macrophages has been linked to TB in different populations.

OBJECTIVE: To assess the role of P2X7 gene −762T/C and −1513A/C polymorphisms in TB susceptibility.

DESIGN: In a case-control study, polymerase chain reaction (PCR) amplification of genomic DNA extracted from peripheral blood samples of cases and controls was followed by restriction fragment length polymorphism or allele-specific PCR.

RESULTS: The 1513C allele was found to be associated with TB susceptibility (P = 0.02, OR for variant C allele 1.33, 95%CI 1.03–1.73). A significant protective association against TB was found for −762T/C polymorphism (P < 0.01, OR for variant C allele 0.72, 95%CI 0.57–0.91). On classifying samples on the basis of sex, only males showed a significant association between P2X7 −1513A/C and P2X7 −762T/C and TB in the present study.

CONCLUSION: A significant association of 762T/C and 1513A/C polymorphisms with TB in the P2X7 gene was found in our study population. A sex bias, with only males showing a significant association with the disease, is the first report of this kind. Genetic studies for the characterisation of the susceptibility genes can help to gain a better understanding of TB pathogenesis.
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Keywords: P2X7; genetic polymorphism; macrophages; tuberculosis

Document Type: Research Article

Affiliations: 1: Department of Biotechnology, Punjab University, Chandigarh, India 2: Department of Pulmonary Medicine, Postgraduate Institute of Medical Education and Research, Chandigarh, India 3: Department of Biotechnology, Shri Guru Gobind Singh College, Chandigarh, India 4: Department of Biotechnology, Goswami Ganesh Dutta Sanatan Dharma College, Chandigarh, India

Publication date: 2012-02-01

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  • The International Journal of Tuberculosis and Lung Disease publishes articles on all aspects of lung health, including public health-related issues such as training programmes, cost-benefit analysis, legislation, epidemiology, intervention studies and health systems research. The IJTLD is dedicated to the continuing education of physicians and health personnel and the dissemination of information on tuberculosis and lung health world-wide.

    Certain IJTLD articles are selected for translation into French, Spanish, Chinese or Russian. They are available on the Union website

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