Arg753Gln polymorphism of the human Toll-like receptor 2 gene from infection to disease in pediatric tuberculosis

Human Immunology

Volumn 72, Issue 5, 2011, Pages 440-445

  Dalgic, Nazan ^a   Tekin, Deniz ^b   Kayaalti, Zeliha ^b   Soylemezoglu, Tulin ^b   Cakir, Erkan ^c   Kilic, Betul ^a   Kutlubay, Busra ^a   Sancar, Mesut ^d   Odabasi, Miyase ^b  

^a SISLI ETFAL TRAINING AND RESEARCH HOSPITAL   (Turkey)

^b ANKARA UNIVERSITY   (Turkey)

^c Sureyyapasa Chest Diseases and Thoracic Surgery Teaching and Research Hospital   (Turkey)

^d MARMARA UNIVERSITY   (Turkey)

Author keywords

Children; Single nucleotide polymorphism; Toll like receptor 2; Tuberculosis

Indexed keywords

GENOMIC DNA; TOLL LIKE RECEPTOR 2;

ARTICLE; CENTRAL NERVOUS SYSTEM TUBERCULOSIS; CHILD; CONTROLLED STUDY; DISEASE COURSE; DNA POLYMORPHISM; EXTRAPULMONARY TUBERCULOSIS; FEMALE; GENE FREQUENCY; GENOTYPE; HETEROZYGOTE; HUMAN; HUMAN TISSUE; INFECTION SENSITIVITY; KIDNEY TUBERCULOSIS; LATENT TUBERCULOSIS; LUNG TUBERCULOSIS; MAJOR CLINICAL STUDY; MALE; MILIARY TUBERCULOSIS; PRIORITY JOURNAL; RECEPTOR GENE; RISK ASSESSMENT; RISK FACTOR; SCHOOL CHILD; TUBERCULOUS LYMPHADENITIS; TUBERCULOUS OSTEOMYELITIS; TUBERCULOUS PERICARDITIS; TUBERCULOUS PERITONITIS; TURKEY (REPUBLIC);

ADOLESCENT; ARGININE; CHILD; CHILD, PRESCHOOL; DISEASE PROGRESSION; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; GLUTAMINE; HUMANS; MALE; MUTATION; POLYMORPHISM, GENETIC; TOLL-LIKE RECEPTOR 2; TUBERCULOSIS, PULMONARY; TURKEY;

EID: 79954621842     PISSN: 01988859     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.humimm.2011.02.001     Document Type: Article

References (26)

1. Ogus A.C., Yoldas B., Ozdemir T., Uguz A., Olcen S., Keser I., et al. The Arg753GLn polymorphism of the human Toll-like receptor 2 gene in tuberculosis disease. Eur Respir J 2004, 23:219-223.
2. Malik S., Abel L., Tooker H., Poon A., Simkin L., Girard M., et al. Alleles of the NRAMP1 gene are risk factors for pediatric tuberculosis disease. Proc Natl Acad Sci USA 2005, 102:12183-12188.
3. Newport M.J., Huxley C.M., Huston S., Hawrylowicz C.M., Oostra B.A., Williamson R., et al. A mutation in the interferon-gamma-receptor gene and susceptibility to mycobacterial infection. N Engl J Med 1996, 26:1941-1949.
4. Jouanguy E., Altare F., Lamhamedi S., Revy P., Emile J.F., Newport M., et al. Interferon-gamma-receptor deficiency in an infant with fatal Bacille Calmette-Guérin infection. N Engl J Med 1996, 26:1956-1961.
5. Casanova J.L., Abel L. Genetic dissection of immunity to mycobacteria: the human model. Annu Rev Immunol 2002, 20:581-620.
6. Ozbek N., Fieschi C., Yilmaz B.T., de Beaucoudrey L., Demirhan B., Feinberg J., et al. Interleukin-12 receptor beta 1 chain deficiency in a child with disseminated tuberculosis. Clin Infect Dis 2005, 40:e55-e58.
7. Sha Q., Truong-Tran A.Q., Plitt J.R., Beck L.A., Schleimer R.P. Activation of airway epithelial cells by Toll-like receptor agonists. Am J Respir Cell Mol Biol 2004, 31:358-364.
8. Underhill D.M., Ozinsky A., Smith K.D., Aderem A. Toll-like receptor-2 mediates mycobacteria-induced proinflammatory signaling in macrophages. Proc Natl Acad Sci U S A 1999, 96:14459-14463.
9. Sachidanandam R., Weissman D., Schmidt S.C., Kakol J.M., Stein L.D., Marth G., et al. A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms. Nature 2001, 15:928-933.
10. Reiling N., Hölscher C., Fehrenbach A., Kröger S., Kirschning C.J., Goyert S., et al. Cutting edge: Toll-like receptor (TLR)2- and TLR4-mediated pathogen recognition in resistance to airborne infection with Mycobacterium tuberculosis. J Immunol 2002, 169:3480-3484.
11. Ben-Ali M., Barbouche M.R., Bousnina S., Chabbou A., Dellagi K. Toll-like receptor 2 Arg677Trp polymorphism is associated with susceptibility to tuberculosis in Tunisian patients. Clin Diagn Lab Immunol 2004, 11:625-626.
12. Alcais A., Fieschi C., Abel L., Casanova J.L. Tuberculosis in children and adults: two distinct genetic disease. J Exp Med 2005, 202:1617-1621.
13. Newton S.M., Brent A.J., Anderson S., Whittaker E., Kampmann B. Paediatric tuberculosis. Lancet Infect Dis 2008, 8:498-510.
14. WHO Tuberculosis Programme Framework for Effective Tuberculosis Control 1994, World Health Organization, World Health Organization, Geneva.
15. WHO Child Growth Standards: Length/Height-for-Age, Weight-for-Age, Weight-for-Height and Body Mass Index-for-Age: Methods and Development 2006, World Health Organization, World Health Organization, Geneva, Switzerland, Accessed June 1, 2010. http://www.who.int/childgrowth/publications/technical_report_pub/en/index.html.
16. Schröder N.W., Hermann C., Hamann L., Göbel U.B., Hartung T., Schumann R.R. High frequency of polymorphism Arg753Gln of the Toll-like receptor-2 gene detected by a novel allele-specific PCR. J Mol Med 2003, 81:368-372.
17. Marais B.J., Gie R.P., Schaaf H.S., Hesseling A.C., Obihara C.C., Nelson L.J., et al. The clinical epidemiology of childhood pulmonary tuberculosis: a critical review of literature from the pre-chemotherapy era. Int J Tuberc Lung Dis 2004, 8:278-285.
18. Schröder N.W., Schumann R.R. Single nucleotide polymorphisms of Toll-like receptors and susceptibility to infectious disease. Lancet Infect Dis 2005, 5:156-164.
19. Lorenz E., Mira J.P., Cornish K.L., Arbour N.C., Schwartz D.A. A novel polymorphism in the Toll-like receptor 2 gene and its potential association with staphylococcal infection. Infect Immun 2000, 68:6398-6401.
20. Moore C.E., Segal S., Berendt A.R., Hill A.V., Day N.P. Lack of association between Toll-like receptor 2 polymorphisms and susceptibility to severe disease caused by Staphylococcus aureus. Clin Diagn Lab Immunol 2004, 11:1194-1197.
21. Berdeli A., Celik H.A., Ozyürek R., Dogrusoz B., Aydin H.H. TLR-2 gene Arg753Gln polymorphism is strongly associated with acute rheumatic fever in children. J Mol Med 2005, 83:535-541.
22. Dupuis S., Dargemont C., Fieschi C., Thomassin N., Rosenzweig S., Harris J., et al. Impairment of mycobacterial but not viral immunity by a germline human STAT1 mutation. Science 2001, 293:300-303.
23. Frucht D.M., Holland S.M. Defective monocyte costimulation for IFN-gamma production in familial disseminated Mycobacterium avium complex infection: abnormal IL-12 regulation. J Immunol 1996, 157:411-416.
24. de Jong R., Altare F., Haagen I.A., Elferink D.G., Boer T., van Breda Vriesman P.J., et al. Severe mycobacterial and Salmonella infections in interleukin-12 receptor-deficient patients. Science 1998, 280:1435-1438.
25. Dorman S.E., Holland S.M. Mutation in the signal-transducing chain of the interferon-gamma receptor and susceptibility to mycobacterial infection. J Clin Invest 1998, 101:2364-2369.
26. Berdeli A., Emingil G., Han Saygan B., Gürkan A., Atilla G., Köse T., et al. TLR2 Arg753Gly, TLR4 Asp299Gly and Thr399Ile gene polymorphisms are not associated with chronic periodontitis in a Turkish population. J Clin Periodontol 2007, 34:551-557.