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Polymorphisms of the NRAMP1 gene: distribution and susceptibility to the development of pulmonary tuberculosis in the Greek population.

AbstractBACKGROUND:
Ample evidence suggests that host genetic factors affect human susceptibility to tuberculosis. The natural resistance-associated macrophage protein 1 (NRAMP1) gene seems to play a role in the pathophysiology of a number of intracellular infections, including mycobacteria. A case-control study was conducted in the Greek population to determine whether NRAMP1 polymorphisms affect the susceptibility to development of overt pulmonary tuberculosis.
MATERIAL/METHODS:
NRAMP1 polymorphisms (3'UTR, D543N, INT4) were evaluated among 142 patients with culture-positive pulmonary tuberculosis and 144 ethnically matched healthy controls having latent M. tuberculosis infection. Patients with human immunodeficiency virus infection were excluded.
RESULTS:
Out of the 3 NRAMP1 polymorphisms, a trend of increased incidence of INT4 polymorphism was found in the patients' group compared to the control group. A lack of association was observed between the 2 groups as far as the other 2 polymorphisms (D543N, 3'UTR) are concerned. INT4-CC homozygotes were found to have a higher risk to develop pulmonary tuberculosis compared to GG homozygotes (p=0.022). An increased incidence G/TGTG/C genotype combination was found in the patients' group as compared to controls. G/TGTG/C genotype combination was associated with a 36% higher risk of developing pulmonary tuberculosis (p=0.004) compared to the baseline expression of G/TGTG/G combination.
CONCLUSIONS:
INT4-NRAMP1 polymorphism may have a role in the development of culture-positive pulmonary tuberculosis after an initial M. tuberculosis latent infection. The possible role of INT4-NRAMP1 polymorphism in the development of active pulmonary tuberculosis needs further investigation.
AuthorsMarios K Stagas, Georgios S Papaetis, Dora Orphanidou, Charalambos Kostopoulos, Stavroula Syriou, Martin Reczko, Nikolaos Drakoulis
JournalMedical science monitor : international medical journal of experimental and clinical research (Med Sci Monit) Vol. 17 Issue 1 Pg. PH1-6 (Jan 2011) ISSN: 1643-3750 [Electronic] United States
PMID21169917 (Publication Type: Journal Article)
Chemical References
  • Cation Transport Proteins
  • DNA Primers
  • natural resistance-associated macrophage protein 1
Topics
  • Adult
  • Aged
  • Case-Control Studies
  • Cation Transport Proteins (genetics)
  • DNA Primers (genetics)
  • Female
  • Genetic Predisposition to Disease (genetics)
  • Genotype
  • Greece (epidemiology)
  • Humans
  • Incidence
  • Male
  • Middle Aged
  • Polymorphism, Genetic (genetics)
  • Tuberculosis (epidemiology, ethnology, genetics)

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