title: Association of P2X7 receptor +1513 (A-->C) polymorphism with tuberculosis in a Punjabi population.
abstract: BACKGROUND
  Development of tuberculosis (TB) disease is an outcome of complex host-pathogen interactions. The purinergic P2X(7) receptors are adenosine triphosphate gated molecules shown to induce killing of intracellular Mycobacterium tuberculosis, followed by apoptosis of the infected macrophage. A single nucleotide polymorphism in exon 13 of the P2X(7) receptors gene at +1513 position has been shown to abolish the function of this receptor and to be associated with increased susceptibility to TB in some ethnic groups.
  
  
  OBJECTIVE
  To explore the association of +1513 (A-->C) polymorphism in TB patients in Punjab, North India.
  
  
  METHODS
  A case-control study was conducted by studying peripheral blood samples from 204 TB patients (181 pulmonary, 23 extra-pulmonary) and 177 controls with no history of TB. P2X(7) +1513 (A-->C) polymorphism was studied using amplification refractory mutation system analysis.
  
  
  RESULTS
  The distribution of +1513 A/C genotypes in the TB patient and the control groups revealed a statistically significant association with TB (P = 0.002).
  
  
  CONCLUSIONS
  The +1513C allele is a risk factor for the development of TB in the North Indian Punjabi population.
authors.affiliation: Department of Molecular Biology and Biochemistry, Guru Nanak Dev University, Amritsar, Punjab, India.
authors.forename: S
authors.initials: S
authors.lastname: Sharma
authors.forename: V
authors.initials: V
authors.lastname: Kumar
authors.forename: R
authors.initials: R
authors.lastname: Khosla
authors.forename: N
authors.initials: N
authors.lastname: Kajal
authors.forename: B
authors.initials: B
authors.lastname: Sarin
authors.forename: P
authors.initials: P
authors.lastname: Sehajpal
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D016022:Case-Control Studies; D002648:Child; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007194:India; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009169:Mycobacterium tuberculosis / Q000302:isolation & purification; D016133:Polymerase Chain Reaction / Q000379:methods; D020641:Polymorphism, Single Nucleotide; D058486:Receptors, Purinergic P2X7 / Q000235:genetics*; D012307:Risk Factors; D014376:Tuberculosis / Q000235:genetics*; D055815:Young Adult
chemical_list: C546468:P2RX7 protein, human; D058486:Receptors, Purinergic P2X7