Polymorphisms in autophagy genes and susceptibility to tuberculosis

PLoS ONE

Volumn 7, Issue 8, 2012, Pages

  Songane, Mario ^a   Kleinnijenhuis, Johanneke ^a   Alisjahbana, Bachti ^b   Sahiratmadja, Edhyana ^b   Parwati, Ida ^b   Oosting, Marije ^a   Plantinga, Theo S ^a   Joosten, Leo A B ^a   Netea, Mihai G ^a   Ottenhoff, Tom H M ^c   van de Vosse, Esther ^c   van Crevel, Reinout ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b PADJADJARAN UNIVERSITY   (Indonesia)

^c LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

GAMMA INTERFERON; INTERLEUKIN 17; INTERLEUKIN 1BETA; INTERLEUKIN 6; INTERLEUKIN 8; TUMOR NECROSIS FACTOR;

ADULT; AGED; ARTICLE; ATG10 GENE; ATG16L2 GENE; ATG2B GENE; ATG4C GENE; ATG5 GENE; ATG9B GENE; AUTOPHAGY; CONTROLLED STUDY; CYTOKINE PRODUCTION; ETHNIC GROUP; FEMALE; GENE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENOTYPE; HUMAN; INDONESIAN; IRGM GENE; LAMP1 GENE; LAMP3 GENE; MAJOR CLINICAL STUDY; MALE; MTOR GENE; MYCOBACTERIUM TUBERCULOSIS; P2RX7 GENE; PERIPHERAL BLOOD MONONUCLEAR CELL; SINGLE NUCLEOTIDE POLYMORPHISM; TUBERCULOSIS; WIPI1 GENE;

ADULT; AUTOPHAGY; CASE-CONTROL STUDIES; CYTOKINES; DEMOGRAPHY; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INDONESIA; MALE; MYCOBACTERIUM TUBERCULOSIS; POLYMORPHISM, GENETIC; TUBERCULOSIS;

MYCOBACTERIUM TUBERCULOSIS;

EID: 84864701501     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0041618     Document Type: Article

References (49)

1. Yuk JM, Shin DM, Lee HM, Yang CS, Jin HS, et al. ((2009)) Vitamin D3 induces autophagy in human monocytes/macrophages via cathelicidin. Cell Host Microbe 6:231-243.
2. Gagneux S, Small PM, ((2007)) Global phylogeography of Mycobacterium tuberculosis and implications for tuberculosis product development. Lancet Infect Dis 7:328-337.
3. Gutierrez MG, Master SS, Singh SB, Taylor GA, Colombo MI, et al. ((2004)) Autophagy is a defense mechanism inhibiting BCG and Mycobacterium tuberculosis survival in infected macrophages. Cell 119:753-766.
4. Goren MB, D'Arcy HP, Young MR, Armstrong JA, ((1976)) Prevention of phagosome-lysosome fusion in cultured macrophages by sulfatides of Mycobacterium tuberculosis. Proc Natl Acad Sci U S A 73:2510-2514.
5. Deretic V, Levine B, ((2009)) Autophagy, immunity, and microbial adaptations. Cell Host Microbe 5:527-549.
6. Xie Z, Klionsky DJ, ((2007)) Autophagosome formation: core machinery and adaptations. Nat Cell Biol 9:1102-1109.
7. Biswas D, Qureshi O, Lee WY, Croudace J, Mura M, et al. ((2008)) ATP-induced autophagy is associated with rapid killing of intracellular mycobacteria within human monocytes/macrophages. BMC Immunol 9:35.
8. Vergne I, Chua J, Singh SB, Deretic V, ((2004)) Cell biology of mycobacterium tuberculosis phagosome. Annu Rev Cell Dev Biol 20:367-394.
9. Kumar D, Nath L, Kamal MA, Varshney A, Jain A, et al. ((2010)) Genome-wide analysis of the host intracellular network that regulates survival of Mycobacterium tuberculosis. Cell 140:731-743.
10. MacMicking JD, Taylor GA, McKinney JD, ((2003)) Immune Control of Tuberculosis by IFN-Inducible LRG-47. Science 302:654-659.
11. Divangahi M, Mostowy S, Coulombe Fo, Kozak R, Guillot Lc, et al. ((2008)) NOD2-Deficient Mice Have Impaired Resistance to Mycobacterium tuberculosis Infection through Defective Innate and Adaptive Immunity. J Immunol 181:7157-7165.
12. Fernando SL, Saunders BM, Sluyter R, Skarratt KK, Wiley JS, et al. ((2005)) Gene Dosage Determines the Negative Effects of Polymorphic Alleles of the P2X7 Receptor on Adenosine Triphosphate Mediated Killing of Mycobacteria by Human Macrophages. J Infect Dis 192:149-155.
13. Ferwerda G, Girardin SE, Kullberg BJ, Le BL, de Jong DJ, et al. ((2005)) NOD2 and toll-like receptors are nonredundant recognition systems of Mycobacterium tuberculosis. PLoS Pathog 1:279-285.
14. King KY, Lew JD, Ha NP, Lin JS, Ma X, et al. ((2011)) Polymorphic allele of human IRGM1 is associated with susceptibility to tuberculosis in African Americans. PLoS One 6:e16317.
15. Che N, Li S, Gao T, Zhang Z, Han Y, et al. ((2010)) Identification of a novel IRGM promoter single nucleotide polymorphism associated with tuberculosis. Clin Chim Acta 411:1645-1649.
16. Intemann CD, Thye T, Niemann S, Browne EN, Amanua CM, et al. ((2009)) Autophagy gene variant IRGM-261T contributes to protection from tuberculosis caused by Mycobacterium tuberculosis but not by M. africanum strains. PLoS Pathog 5:e1000577.
17. Fernando SL, Saunders BM, Sluyter R, Skarratt KK, Goldberg H, et al. ((2007)) A Polymorphism in the P2X7 Gene Increases Susceptibility to Extrapulmonary Tuberculosis. Am J Resp Crit Care Med 175:360-366.
18. Li CM, Campbell SJ, Kumararatne DS, Bellamy R, Ruwende C, et al. ((2002)) Association of a polymorphism in the P2X7 gene with tuberculosis in a Gambian population. J Infect Dis 186:1458-1462.
19. van Crevel R, Parwati I, Sahiratmadja E, Marzuki S, Ottenhoff THM, et al. ((2009)) Infection with Mycobacterium tuberculosis Beijing Genotype Strains Is Associated with Polymorphisms in SLC11A1/NRAMP1 in Indonesian Patients with Tuberculosis. J Infect Dis 200:1671-1674.
20. Parwati I, van Crevel R, Sudiro M, Alisjahbana B, Pakasi T, et al. ((2008)) Mycobacterium tuberculosis Population Structures Differ Significantly on Two Indonesian Islands. J Clin Microbiol 46:3639-3645.
21. van Crevel R, Nelwan RH, de LW, Veeraragu Y, van der Zanden AG, et al. ((2001)) Mycobacterium tuberculosis Beijing genotype strains associated with febrile response to treatment. Emerg Infect Dis 7:880-883.
22. Davila S, Hibberd ML, Hari DR, Wong HE, Sahiratmadja E, et al. ((2008)) Genetic association and expression studies indicate a role of toll-like receptor 8 in pulmonary tuberculosis. PLoS Genet 4:e1000218.
23. Sahiratmadja E, Baak-Pablo R, de Visser AW, Alisjahbana B, Adnan I, et al. ((2007)) Association of polymorphisms in IL-12/IFN-gamma pathway genes with susceptibility to pulmonary tuberculosis in Indonesia. Tuberculosis (Edinb) 87:303-311.
24. Cheng JF, Ning YJ, Zhang W, Lu ZH, Lin L, ((2010)) T300A polymorphism of ATG16L1 and susceptibility to inflammatory bowel diseases: a meta-analysis. World J Gastroenterol 16:1258-1266.
25. Lacher M, Schroepf S, Ballauff A, Lohse P, von Schweinitz D, et al. ((2009)) Autophagy 16-like 1 rs2241880 G allele is associated with Crohn's disease in German children. Acta Paediatr 98:1835-1840.
26. Gateva V, Sandling JK, Hom G, Taylor KE, Chung SA, et al. ((2009)) A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus. Nat Genet 41:1228-1233.
27. Moon CM, Shin DJ, Kim SW, Son NH, Park A, et al. ((2012)) Associations between genetic variants in the IRGM gene and inflammatory bowel diseases in the korean population. Inflamm Bowel Dis.
28. Sehgal R, Berg A, Polinski JI, Hegarty JP, Lin Z, et al. ((2012)) Mutations in IRGM are associated with more frequent need for surgery in patients with ileocolonic Crohn's disease. Dis Colon Rectum 55:115-121.
29. Png E, Alisjahbana B, Sahiratmadja E, Marzuki S, Nelwan R, et al. ((2012)) A genome wide association study of pulmonary tuberculosis susceptibility in Indonesians. BMC Med Genet 13:5.
30. Shepard EM, Chow RA, Suafo'a E, Addison D, Perez-Miranda AM, et al. ((2005)) Autosomal STR variation in five Austronesian populations. Hum Biol 77:825-851.
31. Singh SB, Davis AS, Taylor GA, Deretic V, ((2006)) Human IRGM Induces Autophagy to Eliminate Intracellular Mycobacteria. Science 313:1438-1441.
32. Di VF, ((1995)) The P2Z purinoceptor: an intriguing role in immunity, inflammation and cell death. Immunol today 16:524-528.
33. Lammas DA, Stober C, Harvey CJ, Kendrick N, Panchalingam S, et al. ((1997)) ATP-induced killing of mycobacteria by human macrophages is mediated by purinergic P2Z(P2X7) receptors. Immunity 7:433-444.
34. Stober CB, Lammas DA, Li CM, Kumararatne DS, Lightman SL, et al. ((2001)) ATP-Mediated Killing of Mycobacterium bovis Bacille Calmette-Guerin Within Human Macrophages Is Calcium Dependent and Associated with the Acidification of Mycobacteria-Containing Phagosomes. J Immunol 166:6276-6286.
35. Myers AJ, Eilertson B, Fulton SA, Flynn JL, Canaday DH, ((2005)) The Purinergic P2X7 Receptor Is Not Required for Control of Pulmonary Mycobacterium tuberculosis Infection. Infect Immun 73:3192-3195.
36. Bornman L, Campbell SJ, Fielding K, Bah B, Sillah J, et al. ((2004)) Vitamin D Receptor Polymorphisms and Susceptibility to Tuberculosis in West Africa: A Case-Control and Family Study. J Infect Dis 190:1631-1641.
37. Martineau AR, Timms PM, Bothamley GH, Hanifa Y, Islam K, et al. ((2011)) High-dose vitamin D(3) during intensive-phase antimicrobial treatment of pulmonary tuberculosis: a double-blind randomised controlled trial. Lancet 377:242-250.
38. Roth DE, Soto G, Arenas F, Bautista CT, Ortiz J, et al. ((2004)) Association between Vitamin D Receptor Gene Polymorphisms and Response to Treatment of Pulmonary Tuberculosis. J Infect Dis 190:920-927.
39. Bellamy R, Ruwende C, Corrah T, McAdam KPWJ, Whittle HC, et al. ((1998)) Variations in the NRAMP1 Gene and Susceptibility to Tuberculosis in West Africans. N Eng J Med 338:640-644.
40. Delgado JC, Baena A, Thim S, Goldfeld AE, ((2002)) Ethnic-Specific Genetic Associations with Pulmonary Tuberculosis. J Infect Dis 186:1463-1468.
41. Hoal-Van Helden EG, Epstein J, Victor TC, Hon D, Lewis LA, et al. ((1999)) Mannose-binding protein B allele confers protection against tuberculous meningitis. Pediatr Res 45:459-464.
42. Selvaraj P, Narayanan PR, Reetha AM, ((1999)) Association of functional mutant homozygotes of the mannose binding protein gene with susceptibility to pulmonary tuberculosis in India. Tuber Lung Dis 79:221-227.
43. Bellamy R, ((2003)) Susceptibility to mycobacterial infections: the importance of host genetics. Genes Immun 4:4-11.
44. Eskelinen EL, ((2006)) Roles of LAMP-1 and LAMP-2 in lysosome biogenesis and autophagy. Mol Aspects Med 27:495-502.
45. Binker MG, Cosen-Binker LI, Terebiznik MR, Mallo GV, McCaw SE, et al. ((2007)) Arrested maturation of Neisseria-containing phagosomes in the absence of the lysosome-associated membrane proteins, LAMP-1 and LAMP-2. Cell Microbiol 9:2153-2166.
46. Crisan TO, Plantinga TS, van de Veerdonk FL, Farcas MF, Stoffels M, et al. ((2011)) Inflammasome-independent modulation of cytokine response by autophagy in human cells. PLoS One 6:e18666.
47. Kleinnijenhuis J, Oosting M, Plantinga TS, van der Meer JW, Joosten LA, et al. ((2011)) Autophagy modulates the Mycobacterium tuberculosis-induced cytokine response. Immunology 134:341-348.
48. Plantinga TS, Crisan TO, Oosting M, van dV, de Jong DJ, et al. ((2011)) Crohn's disease-associated ATG16L1 polymorphism modulates pro-inflammatory cytokine responses selectively upon activation of NOD2. Gut 60:1229-1235.
49. Alisjahbana B, van CR, Sahiratmadja E, den HM, Maya A, et al. ((2006)) Diabetes mellitus is strongly associated with tuberculosis in Indonesia. Int J Tuberc Lung Dis 10:696-700.