ATG16L1 and NOD2 polymorphisms enhance phagocytosis in monocytes of Crohn's disease patients

World Journal of Gastroenterology

Volumn 20, Issue 10, 2014, Pages 2664-2672

  Wolfkamp, Simone C S ^a   Verseyden, Caroline ^a   Vogels, Esther W M ^a   Meisner, Sander ^a   Boonstra, Kirsten ^a   Peters, Charlotte P ^a   Stokkers, Pieter C F ^b   te Velde, Anje A ^a  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

^b ONZE LIEVE VROUWE GASTHUIS   (Netherlands)

Author keywords

Autophagy related like 1; Granulocytes; Immunity related guanosine triphosphatase gene; Inflammatory bowel disease; Monocytes; Nucleotide binding ligomerization domain containing protein 2; Phagocytosis; Polymorphism

Indexed keywords

C REACTIVE PROTEIN; CASPASE RECRUITMENT DOMAIN PROTEIN 15; IRGM PROTEIN; PEPTIDES AND PROTEINS; UNCLASSIFIED DRUG; ATG16L1 PROTEIN, HUMAN; CARRIER PROTEIN; NOD2 PROTEIN, HUMAN;

ADOLESCENT; ADULT; ARTICLE; ASSAY; ATG16L1 GENE; AUTOPHAGY; CONTROLLED STUDY; CROHN DISEASE; DISEASE ACTIVITY; FEMALE; FLOW CYTOMETRY; GENE; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GRANULOCYTE; HUMAN; INFLAMMATORY BOWEL DISEASE; MAJOR CLINICAL STUDY; MALE; MONOCYTE; PHAGOCYTOSIS; PHRODO ASSAY; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; ULCERATIVE COLITIS; CASE CONTROL STUDY; COMPARATIVE STUDY; GENETIC PREDISPOSITION; GENETICS; HETEROZYGOTE; HOMOZYGOTE; MICROBIOLOGY; PHENOTYPE; SEVERITY OF ILLNESS INDEX; YOUNG ADULT;

ADOLESCENT; ADULT; CARRIER PROTEINS; CASE-CONTROL STUDIES; COLITIS, ULCERATIVE; CROHN DISEASE; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GRANULOCYTES; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MALE; MONOCYTES; NOD2 SIGNALING ADAPTOR PROTEIN; PHAGOCYTOSIS; PHENOTYPE; POLYMORPHISM, GENETIC; SEVERITY OF ILLNESS INDEX; YOUNG ADULT;

EID: 84896811079     PISSN: 10079327     EISSN: 22192840     Source Type: Journal    
DOI: 10.3748/wjg.v20.i10.2664     Document Type: Article

References (25)

1. Schmid D, Münz C. Immune surveillance via self digestion. Autophagy 2007; 3: 133-135 [PMID: 17204851]
2. Schmid D, Münz C. Innate and adaptive immunity through autophagy. Immunity 2007; 27: 11-21 [PMID: 17663981]
3. Hugot JP, Chamaillard M, Zouali H, Lesage S, Cézard JP, Belaiche J, Almer S, Tysk C, O'Morain CA, Gassull M, Binder V, Finkel Y, Cortot A, Modigliani R, Laurent-Puig P, Gower-Rousseau C, Macry J, Colombel JF, Sahbatou M, Thomas G. Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. Nature 2001; 411: 599-603 [PMID: 11385576]
4. Saitoh T, Fujita N, Jang MH, Uematsu S, Yang BG, Satoh T, Omori H, Noda T, Yamamoto N, Komatsu M, Tanaka K, Kawai T, Tsujimura T, Takeuchi O, Yoshimori T, Akira S. Loss of the autophagy protein Atg16L1 enhances endotoxininduced IL-1beta production. Nature 2008; 456: 264-268 [PMID: 18849965 DOI: 10.1038/nature07383]
5. Homer CR, Richmond AL, Rebert NA, Achkar JP, McDonald C. ATG16L1 and NOD2 interact in an autophagy-dependent antibacterial pathway implicated in Crohn's disease pathogenesis. Gastroenterology 2010; 139: 1630-1641, 1641. e1-2 [PMID: 20637199 DOI: 10.1053/j.gastro.2010.07.006]
6. Maeda S, Hsu LC, Liu H, Bankston LA, Iimura M, Kagnoff MF, Eckmann L, Karin M. Nod2 mutation in Crohn's disease potentiates NF-kappaB activity and IL-1beta processing. Science 2005; 307: 734-738 [PMID: 15692052]
7. Noguchi E, Homma Y, Kang X, Netea MG, Ma X. A Crohn's disease-associated NOD2 mutation suppresses transcription of human IL10 by inhibiting activity of the nuclear ribonucleoprotein hnRNP-A1. Nat Immunol 2009; 10: 471-479 [PMID: 19349988 DOI: 10.1038/ni.1722]
8. Kuballa P, Huett A, Rioux JD, Daly MJ, Xavier RJ. Impaired autophagy of an intracellular pathogen induced by a Crohn' s disease associated ATG16L1 variant. PLoS One 2008; 3: e3391 [PMID: 18852889 DOI: 10.1371/journal.pone.0003391]
9. Fava F, Danese S. Intestinal microbiota in inflammatory bowel disease: friend of foe? World J Gastroenterol 2011; 17: 557-566 [PMID: 21350704 DOI: 10.3748/wjg.v17.i5.557]
10. Barrett JC, Hansoul S, Nicolae DL, Cho JH, Duerr RH, Rioux JD, Brant SR, Silverberg MS, Taylor KD, Barmada MM, Bitton A, Dassopoulos T, Datta LW, Green T, Griffiths AM, Kistner EO, Murtha MT, Regueiro MD, Rotter JI, Schumm LP, Steinhart AH, Targan SR, Xavier RJ, Libioulle C, Sandor C, Lathrop M, Belaiche J, Dewit O, Gut I, Heath S, Laukens D, Mni M, Rutgeerts P, Van Gossum A, Zelenika D, Franchimont D, Hugot JP, de Vos M, Vermeire S, Louis E, Cardon LR, Anderson CA, Drummond H, Nimmo E, Ahmad T, Prescott NJ, Onnie CM, Fisher SA, Marchini J, Ghori J, Bumpstead S, Gwilliam R, Tremelling M, Deloukas P, Mansfield J, Jewell D, Satsangi J, Mathew CG, Parkes M, Georges M, Daly MJ. Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. Nat Genet 2008; 40: 955-962 [PMID: 18587394 DOI: 10.1038/ng.175]
11. Duerr RH, Taylor KD, Brant SR, Rioux JD, Silverberg MS, Daly MJ, Steinhart AH, Abraham C, Regueiro M, Griffiths A, Dassopoulos T, Bitton A, Yang H, Targan S, Datta LW, Kistner EO, Schumm LP, Lee AT, Gregersen PK, Barmada MM, Rotter JI, Nicolae DL, Cho JH. A genome-wide association study identifies IL23R as an inflammatory bowel disease gene. Science 2006; 314: 1461-1463 [PMID: 17068223]
12. Parkes M, Barrett JC, Prescott NJ, Tremelling M, Anderson CA, Fisher SA, Roberts RG, Nimmo ER, Cummings FR, Soars D, Drummond H, Lees CW, Khawaja SA, Bagnall R, Burke DA, Todhunter CE, Ahmad T, Onnie CM, McArdle W, Strachan D, Bethel G, Bryan C, Lewis CM, Deloukas P, Forbes A, Sanderson J, Jewell DP, Satsangi J, Mansfield JC, Cardon L, Mathew CG. Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility. Nat Genet 2007; 39: 830-832 [PMID: 17554261]
13. Rioux JD, Xavier RJ, Taylor KD, Silverberg MS, Goyette P, Huett A, Green T, Kuballa P, Barmada MM, Datta LW, Shugart YY, Griffiths AM, Targan SR, Ippoliti AF, Bernard EJ, Mei L, Nicolae DL, Regueiro M, Schumm LP, Steinhart AH, Rotter JI, Duerr RH, Cho JH, Daly MJ, Brant SR. Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis. Nat Genet 2007; 39: 596-604 [PMID: 17435756]
14. Hampe J, Franke A, Rosenstiel P, Till A, Teuber M, Huse K, Albrecht M, Mayr G, De La Vega FM, Briggs J, Günther S, Prescott NJ, Onnie CM, Häsler R, Sipos B, Fölsch UR, Lengauer T, Platzer M, Mathew CG, Krawczak M, Schreiber S. A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1. Nat Genet 2007; 39: 207-211 [PMID: 17200669]
15. Roberts RL, Hollis-Moffatt JE, Gearry RB, Kennedy MA, Barclay ML, Merriman TR. Confirmation of association of IRGM and NCF4 with ileal Crohn's disease in a populationbased cohort. Genes Immun 2008; 9: 561-565 [PMID: 18580884 DOI: 10.1038/gene.2008.49]
16. Singh SB, Davis AS, Taylor GA, Deretic V. Human IRGM induces autophagy to eliminate intracellular mycobacteria. Science 2006; 313: 1438-1441 [PMID: 16888103]
17. Xavier RJ, Huett A, Rioux JD. Autophagy as an important process in gut homeostasis and Crohn's disease pathogenesis. Gut 2008; 57: 717-720 [PMID: 18272545 DOI: 10.1136/ gut.2007.134254]
18. Fritz T, Niederreiter L, Adolph T, Blumberg RS, Kaser A. Crohn's disease: NOD2, autophagy and ER stress converge. Gut 2011; 60: 1580-1588 [PMID: 21252204 DOI: 10.1136/ gut.2009.206466]
19. Auffray C, Sieweke MH, Geissmann F. Blood monocytes: development, heterogeneity, and relationship with dendritic cells. Annu Rev Immunol 2009; 27: 669-692 [PMID: 19132917 DOI: 10.1146/annurev.immunol.021908]
20. Geissmann F, Manz MG, Jung S, Sieweke MH, Merad M, Ley K. Development of monocytes, macrophages, and dendritic cells. Science 2010; 327: 656-661 [PMID: 20133564 DOI: 10.1126/science.1178331]
21. Casanova JL, Abel L. Revisiting Crohn's disease as a primary immunodeficiency of macrophages. J Exp Med 2009; 206: 1839-1843 [PMID: 19687225 DOI: 10.1084/jem.20091683]
22. Henckaerts L, Nielsen KR, Steffensen R, Van Steen K, Mathieu C, Giulietti A, Wouters PJ, Milants I, Vanhorebeek I, Langouche L, Vermeire S, Rutgeerts P, Thiel S, Wilmer A, Hansen TK, Van den Berghe G. Polymorphisms in innate immunity genes predispose to bacteremia and death in the medical intensive care unit. Crit Care Med 2009; 37: 192-201, e1-3 [PMID: 19050632 DOI: 10.1097/CCM.0b013e31819263d8]
23. Glubb DM, Gearry RB, Barclay ML, Roberts RL, Pearson J, Keenan JI, McKenzie J, Bentley RW. NOD2 and ATG16L1 polymorphisms affect monocyte responses in Crohn's disease. World J Gastroenterol 2011; 17: 2829-2837 [PMID: 21734790 DOI: 10.3748/wjg.v17.i23.2829]
24. Plantinga TS, Crisan TO, Oosting M, van de Veerdonk FL, de Jong DJ, Philpott DJ, van der Meer JW, Girardin SE, Joosten LA, Netea MG. Crohn's disease-associated ATG16L1 polymorphism modulates pro-inflammatory cytokine responses selectively upon activation of NOD2. Gut 2011; 60: 1229-1235 [PMID: 21406388 DOI: 10.1136/gut.2010.228908]
25. Cooney R, Baker J, Brain O, Danis B, Pichulik T, Allan P, Ferguson DJ, Campbell BJ, Jewell D, Simmons A. NOD2 stimulation induces autophagy in dendritic cells influencing bacterial handling and antigen presentation. Nat Med 2010; 16: 90-97 [PMID: 19966812 DOI: 10.1038/nm.2069