Determination of autophagy gene ATG16L1 polymorphism in human colorectal cancer

Romanian Journal of Morphology and Embryology

Volumn 55, Issue 1, 2014, Pages 57-62

  Nicoli, Elena Raluca ^a   Dumitrescu, Theodor ^a,b   Uscatu, Constantin Daniel ^a,b   Popescu, Florin Dan ^c   Streaţǎ, Ioana ^a   Şoşoi, Simona Şerban ^a   Ivanov, Petar ^a   Dumitrescu, Alexandra ^b   Bǎrbǎlan, Alexandru ^a,b   Lungulescu, Dan ^d   Petrescu, Florin ^a   Schenker, Michael ^a   Verdeş, Doina ^e   Sǎftoiu, Adrian ^a,f  

^a UNIVERSITY OF MEDICINE AND PHARMACY OF CRAIOVA   (Romania)

^b EMERGENCY COUNTY HOSPITAL   (Romania)

^c CAROL DAVILA UNIVERSITY OF MEDICINE AND PHARMACY   (Romania)

^d OncoLab Medical Center   (Romania)

^e VICTOR BABES UNIVERSITY OF MEDICINE AND PHARMACY   (Romania)

^f GENTOFTE UNIVERSITY HOSPITAL   (Denmark)

Author keywords

ATG16L1; Autophagy; Colorectal cancer; Gene polymorphism

Indexed keywords

ATG16L1 PROTEIN, HUMAN; CARRIER PROTEIN;

AGED; AUTOPHAGY; CANCER STAGING; COLORECTAL TUMOR; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION; GENETICS; HUMAN; MALE; MIDDLE AGED; PATHOLOGY; RISK FACTOR; ROMANIA; SINGLE NUCLEOTIDE POLYMORPHISM;

AGED; AUTOPHAGY; CARRIER PROTEINS; COLORECTAL NEOPLASMS; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MIDDLE AGED; NEOPLASM STAGING; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS; ROMANIA;

EID: 84898645784     PISSN: 12200522     EISSN: 20668279     Source Type: Journal    
DOI: None     Document Type: Article

References (42)

1. Beaugerie L, Svrcek M, Seksik P, Bouvier AM, Simon T, Allez M, Brixi H, Gornet JM, Altwegg R, Beau P, Duclos B, Bourreille A, Faivre J, Peyrin-Biroulet L, Fléjou JF, Carrat F; CESAME Study Group, Risk of colorectal high-grade dysplasia and cancer in a prospective observational cohort of patients with inflammatory bowel disease, Gastroenterology, 2013, 145(1):166-175.
2. Manninen P, Karvonen AL, Huhtala H, Aitola P, Hyöty M, Nieminen I, Hemminki H, Collin P, The risk of colorectal cancer in patients with inflammatory bowel diseases in Finland: a follow-up of 20 years, J Crohns Colitis, 2013, 7(11):e551-e557.
3. Naser SA, Arce M, Khaja A, Fernandez M, Naser N, Elwasila S, Thanigachalam S, Role of ATG16L, NOD2 and IL23R in Crohn's disease pathogenesis, World J Gastroenterol, 2012, 18(5):412-424.
4. Deretic V, Saitoh T, Akira S, Autophagy in infection, inflammation and immunity, Nat Rev Immunol, 2013, 13(10):722-737.
5. Gillen CD, Andrews HA, Prior P, Allan RN, Crohn's disease and colorectal cancer, Gut, 1994, 35(5):651-655.
6. Choi AM, Ryter SW, Levine B, Autophagy in human health and disease, N Engl J Med, 2013, 368(19):1845-1846.
7. Liu EY, Ryan KM, Autophagy and cancer -issues we need to digest, J Cell Sci, 2012, 125(Pt 10):2349-2358.
8. Kang MR, Kim MS, Oh JE, Kim YR, Song SY, Kim SS, Ahn CH, Yoo NJ, Lee SH, Frameshift mutations of autophagy-related genes ATG2B, ATG5, ATG9B and ATG12 in gastric and colorectal cancers with microsatellite instability, J Pathol, 2009, 217(5):702-706.
9. Takahashi Y, Coppola D, Matsushita N, Cualing HD, Sun M, Sato Y, Liang C, Jung JU, Cheng JQ, Mulé JJ, Pledger WJ, Wang HG, Bif-1 interacts with Beclin 1 through UVRAG and regulates autophagy and tumorigenesis, Nat Cell Biol, 2007, 9(10):1142-1151.
10. Kim MS, Jeong EG, Ahn CH, Kim SS, Lee SH, Yoo NJ, Frameshift mutation of UVRAG, an autophagy-related gene, in gastric carcinomas with microsatellite instability, Hum Pathol, 2008, 39(7):1059-1063.
11. Selvakumaran M, Amaravadi RK, Vasilevskaya IA, O'Dwyer PJ, Autophagy inhibition sensitizes colon cancer cells to antiangiogenic and cytotoxic therapy, Clin Cancer Res, 2013, 19(11):2995-3007.
12. Heath RJ, Xavier RJ, Autophagy, immunity and human disease, Curr Opin Gastroenterol, 2009, 25(6):512-520.
13. Sato K, Tsuchihara K, Fujii S, Sugiyama M, Goya T, Atomi Y, Ueno T, Ochiai A, Esumi H, Autophagy is activated in colorectal cancer cells and contributes to the tolerance to nutrient deprivation, Cancer Res, 2007, 67(20):9677-9684.
14. 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(7219):264-268.
15. Apte RN, Voronov E, Interleukin-1 -a major pleiotropic cytokine in tumor-host interactions, Semin Cancer Biol, 2002, 12(4):277-290.
16. Boland CR, Chronic inflammation, colorectal cancer and gene polymorphisms, Dig Dis, 2010, 28(4-5):590-595.
17. McAfee Q, Zhang Z, Samanta A, Levi SM, Ma XH, Piao S, Lynch JP, Uehara T, Sepulveda AR, Davis LE, Winkler JD, Amaravadi RK, Autophagy inhibitor Lys05 has single-agent antitumor activity and reproduces the phenotype of a genetic autophagy deficiency, Proc Natl Acad Sci U S A, 2012, 109(21):8253-8258.
18. Huijbers A, Plantinga TS, Joosten LA, Aben KK, Gudmundsson J, den Heijer M, Kiemeney LA, Netea MG, Hermus AR, Netea-Maier RT, The effect of the ATG16L1 Thr300Ala polymorphism on susceptibility and outcome of patients with epithelial cell-derived thyroid carcinoma, Endocr Relat Cancer, 2012, 19(3):L15-L18.
19. Meijer AJ, Codogno P, Regulation and role of autophagy in mammalian cells, Int J Biochem Cell Biol, 2004, 36(12):2445-2462.
20. Read S, Malmström V, Powrie F, Cytotoxic T lymphocyteassociated antigen 4 plays an essential role in the function of CD25(+)CD4(+) regulatory cells that control intestinal inflammation, J Exp Med, 2000, 192(2):295-302.
21. Fujita N, Itoh T, Omori H, Fukuda M, Noda T, Yoshimori T, The Atg16L complex specifies the site of LC3 lipidation for membrane biogenesis in autophagy, Mol Biol Cell, 2008, 19(5):2092-2100.
22. Tremelling M, Cummings F, Fisher SA, Mansfield J, Gwilliam R, Keniry A, Nimmo ER, Drummond H, Onnie CM, Prescott NJ, Sanderson J, Bredin F, Berzuini C, Forbes A, Lewis CM, Cardon L, Deloukas P, Jewell D, Mathew CG, Parkes M, Satsangi J, IL23R variation determines susceptibility but not disease phenotype in inflammatory bowel disease, Gastroenterology, 2007, 132(5):1657-1664.
23. Settembre C, Fraldi A, Medina DL, Ballabio A, Signals from the lysosome: a control centre for cellular clearance and energy metabolism, Nat Rev Mol Cell Biol, 2013, 14(5):283-296.
24. Matsushita M, Suzuki NN, Obara K, Fujioka Y, Ohsumi Y, Inagaki F, Structure of Atg5.Atg16, a complex essential for autophagy, J Biol Chem, 2007, 282(9):6763-6772.
25. 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, Genomewide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis, Nat Genet, 2007, 39(5):596-604.
26. Zheng H, Ji C, Li J, Jiang H, Ren M, Lu Q, Gu S, Mao Y, Xie Y, Cloning and analysis of human Apg16L, DNA Seq, 2004, 15(4):303-305.
27. Boada-Romero E, Letek M, Fleischer A, Pallauf K, Ramón-Barros C, Pimentel-Muiños FX, TMEM59 defines a novel ATG16L1-binding motif that promotes local activation of LC3, EMBO J, 2013, 32(4):566-582.
28. Baldassano RN, Bradfield JP, Monos DS, Kim CE, Glessner JT, Casalunovo T, Frackelton EC, Otieno FG, Kanterakis S, Shaner JL, Smith RM, Eckert AW, Robinson LJ, Onyiah CC, Abrams DJ, Chiavacci RM, Skraban R, Devoto M, Grant SF, Hakonarson H, Association of the T300A non-synonymous variant of the ATG16L1 gene with susceptibility to paediatric Crohn's disease, Gut, 2007, 56(8):1171-1173.
29. Roberts RL, Gearry RB, Hollis-Moffatt JE, Miller AL, Reid J, Abkevich V, Timms KM, Gutin A, Lanchbury JS, Merriman TR, Barclay ML, Kennedy MA, IL23R R381Q and ATG16L1 T300A are strongly associated with Crohn's disease in a study of New Zealand Caucasians with inflammatory bowel disease, Am J Gastroenterol, 2007, 102(12):2754-2761.
30. Büning C, Durmus T, Molnar T, de Jong DJ, Drenth JP, Fiedler T, Gentz E, Todorov T, Haas V, Buhner S, Sturm A, Baumgart DC, Nagy F, Lonovics J, Landt O, Kage A, Büning H, Nickel R, Büttner J, Lochs H, Schmidt HH, Witt H, A study in three European IBD cohorts confirms that the ATG16L1 c.898A>G (p.Thr300Ala) variant is a susceptibility factor for Crohn's disease, J Crohns Colitis, 2007, 1(2):70-76.
31. Latiano A, Palmieri O, Valvano MR, D'Incà R, Cucchiara S, Riegler G, Staiano AM, Ardizzone S, Accomando S, de Angelis GL, Corritore G, Bossa F, Annese V, Replication of interleukin 23 receptor and autophagy-related 16-like 1 association in adult-and pediatric-onset inflammatory bowel disease in Italy, World J Gastroenterol, 2008, 14(29):4643-4651.
32. Sventoraityte J, Zvirbliene A, Franke A, Kwiatkowski R, Kiudelis G, Kupcinskas L, Schreiber S, NOD2, IL23R and ATG16L1 polymorphisms in Lithuanian patients with inflammatory bowel disease, World J Gastroenterol, 2010, 16(3):359-364.
33. Libioulle C, Louis E, Hansoul S, Sandor C, Farnir F, Franchimont D, Vermeire S, Dewit O, de Vos M, Dixon A, Demarche B, Gut I, Heath S, Foglio M, Liang L, Laukens D, Mni M, Zelenika D, Van Gossum A, Rutgeerts P, Belaiche J, Lathrop M, Georges M, Novel Crohn disease locus identified by genome-wide association maps to a gene desert on 5p13.1 and modulates expression of PTGER4, PLoS Genet, 2007, 3(4):e58.
34. Hradsky O, Dusatkova P, Lenicek M, Bronsky J, Nevoral J, Vitek L, Lukas M, Zeniskova I, Cinek O, The CTLA4 variants may interact with the IL23R-and NOD2-conferred risk in development of Crohn's disease, BMC Med Genet, 2010, 11:91.
35. Xia B, Crusius JB, Wu J, Zwiers A, van Bodegraven AA, Peña AS, CTLA4 gene polymorphisms in Dutch and Chinese patients with inflammatory bowel disease, Scand J Gastroenterol, 2002, 37(11):1296-1300.
36. Lu SZ, Harrison-Findik DD, Autophagy and cancer, World J Biol Chem, 2013, 4(3):64-70.
37. Yang ZJ, Chee CE, Huang S, Sinicrope F, Autophagy modulation for cancer therapy, Cancer Biol Ther, 2011, 11(2):169-176.
38. Nencioni A, Cea M, Montecucco F, Longo VD, Patrone F, Carella AM, Holyoake TL, Helgason GV, Autophagy in blood cancers: biological role and therapeutic implications, Haematologica, 2013, 98(9):1335-1343.
39. Yang ZJ, Chee CE, Huang S, Sinicrope FA, The role of autophagy in cancer: therapeutic implications, Mol Cancer Ther, 2011, 10(9):1533-1541.
40. Brest P, Corcelle EA, Cesaro A, Chargui A, Belaïd A, Klionsky DJ, Vouret-Craviari V, Hebuterne X, Hofman P, Mograbi B, Autophagy and Crohn's disease: at the crossroads of infection, inflammation, immunity, and cancer, Curr Mol Med, 2010, 10(5):486-502.
41. Yoshioka A, Miyata H, Doki Y, Yamasaki M, Sohma I, Gotoh K, Takiguchi S, Fujiwara Y, Uchiyama Y, Monden M, LC3, an autophagosome marker, is highly expressed in gastrointestinal cancers, Int J Oncol, 2008, 33(3):461-468.
42. Arroyo DS, Gaviglio EA, Peralta Ramos JM, Bussi C, Rodriguez-Galan MC, Iribarren P, Autophagy in inflammation, infection, neurodegeneration and cancer, Int Immunopharmacol, 2013, 18(1):55-65.