Τόμος 24 (2010) – Τεύχος 2 – Άρθρο 80 – Επιθεώρηση Κλινικής Φαρμακολογίας και Φαρμακοκινητικής-Διεθνής Έκδοση – Volume 24 (2010) – Issue 2 – Article 80 – Epitheorese Klinikes Farmakologias και Farmakokinetikes-International Edition

Title Incidence and distribution of the polymorphisms in the NRAMP1 (SLC11a1) gene and susceptibility to tuberculosis in Greek population
Authors Marios K. Stagas1, Dora Orfanidou1, Charalambos Kostopoulos2, Stavroula Syriou3, Martin Rezcko4 and Nikolaos Drakoulis5

1. 3rd Clinic of Internal Medicine, 2. Dept of Clinical Therapeutics, School of Medicine, University of Athens, Greece

3. Dept of Molecular Diagnostics, Research Diagnostics, Spin off company, University of Athens, Greece

4. Dept of Statistics, Institute of Biomedical Research Alexander Fleming, Vari, Greece

5. Dept of Pharmaceutical Technology, School of Pharmacy, University of Athens, Greece

Citation Stagas, M.K., Orfanidou, D., Kostopoulos, C., Syriou, S., Rezcko, M. et al.: Incidence and distribution of the polymorphisms in the NRAMP1 (SLC11a1) gene and susceptibility to tuberculosis in Greek population, Epitheorese Klin. Farmakol. Farmakokinet. 24(2): 214-216 (2010)
Publication Date 2010
Full Text Language English
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Keywords NRAMP1/SLC11A1, Tuberculosis, INT4, D543N, 3΄UTR.
Other Terms Review article
Summary There is substantial evidence that host genetic factors affect the susceptibility to tuberculosis. The natural resistance macrophage protein 1 (NRAMP1, now known as SLC11a1, solute carrier family 11 member) seems to play a role in the pathophysiology of infections with mycobacteria. The aim of this study was to determine whether NRAMP1 polymorphisms affect the incidence of tuberculosis in Greek population. A case control study design was used to compare the frequency of 3΄UTR, D543N, INT4 of NRAMP1 among 142 tuberculosis patients and 144 ethnically matched healthy controls. All patients were diagnosed by X-ray, smear and culture tests from the laboratory of the general hospital of thoracic diseases “Sotiria”. Out of the three NRAMP1 polymorphisms only the poly-morphism in intron 4 (INT4) showed a significant association with tuberculosis, with CC homozygotes having higher risk of developing tuberculosis as compared with GG (odds ratio [OR]=7.31, 95% confidence interval [CI]=1.33-40.17, p value=0.022). Regarding the other two polymorphisms (D543N, 3΄UTR) there was no evidence for a linkage with tuberculosis as opposed to the INT4 polymorphism.
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