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P2X7 gene polymorphisms and risk assessment for pulmonary tuberculosis in Asian Indians

Venkatasubramanian Sambasivan1, Kolluri Janaki Rama Murthy, Ravindra Reddy

  • 1Department of Genetics, Bhagwan Mahavir Medical Research Centre, Hyderabad, India.

Disease Markers
|February 19, 2010
PubMed
Abstract

Insights

Certain P2X7 receptor gene variations, specifically the -762C allele and 1729T allele, are linked to an increased risk of developing pulmonary tuberculosis (PTB). These findings may aid in identifying individuals susceptible to PTB.

Area of Science:

  • Immunogenetics
  • Molecular Biology
  • Infectious Diseases

Background:

  • Pulmonary tuberculosis (PTB) is a significant global health concern.
  • Macrophages and the purinergic P2X7 receptor are crucial in tuberculosis immunopathogenesis.
  • Extracellular ATP signaling via P2X7 receptors can enhance macrophage bactericidal activity.

Purpose of the Study:

  • To investigate the association between specific P2X7 receptor gene polymorphisms (-762 T/C, 1513A/C, 1729T/A) and the risk of developing PTB.
  • To determine if these polymorphisms are risk factors for PTB in the Asian Indian population.

Main Methods:

  • A case-control study was conducted with 156 PTB patients and 100 healthy controls.
  • Genotyping of P2X7 polymorphisms was performed using Polymerase Chain Reaction (PCR) and Restriction Fragment Length Polymorphism (RFLP) analysis.

Main Results:

  • The -762 C allele of the P2X7 receptor gene showed a significant association with PTB (p=0.0051, OR=1.6972).
  • The 1729 T allele was strongly associated with an increased risk of PTB (p < 0.0005, OR=2.4623).
  • No significant association was found for the 1513A/C polymorphism.

Conclusions:

  • The P2X7 receptor polymorphisms, specifically the -762C and 1729T alleles, are significantly associated with PTB in the studied Asian Indian population.
  • These genetic variations may serve as potential biomarkers for identifying individuals at higher risk of developing tuberculosis.

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