Association of ATG5 gene polymorphisms with behçet’s disease and ATG10 gene polymorphisms with VKH syndrome in a chinese han population

Investigative Ophthalmology and Visual Science

Volumn 56, Issue 13, 2015, Pages 8280-8287

  Zheng, Minming ^a   Yu, Hongsong ^a   Zhang, Lijun ^a   Li, Hua ^a   Liu, Yunjia ^a   Kijlstra, Aize ^b   Yang, Peizeng ^a  

^a THE FIRST AFFILIATED HOSPITAL OF CHONGQING MEDICAL UNIVERSITY   (China)

^b MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

ATG10; ATG5; Beh et s disease; VKH syndrome

Indexed keywords

AUTOPHAGY RELATED GENE 10 PROTEIN; AUTOPHAGY RELATED GENE 5 PROTEIN; GENOMIC DNA; MEMBRANE PROTEIN; MESSENGER RNA; UNCLASSIFIED DRUG; ATG5 PROTEIN, HUMAN; DNA; MICROTUBULE ASSOCIATED PROTEIN;

ADULT; ALLELE; ARTICLE; AUTOPHAGY RELATED GENE 10; AUTOPHAGY RELATED GENE 5; BEHCET DISEASE; BLOOD SAMPLING; CHINESE; CONTROLLED STUDY; DNA EXTRACTION; FEMALE; GENE; GENE EXPRESSION; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; PERIPHERAL BLOOD MONONUCLEAR CELL; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SINGLE NUCLEOTIDE POLYMORPHISM; VOGT KOYANAGI SYNDROME; CELL CULTURE; CHINA; CLINICAL TRIAL; EPIDEMIOLOGY; ETHNIC GROUP; ETHNOLOGY; GENE FREQUENCY; GENETIC POLYMORPHISM; GENETIC PREDISPOSITION; GENETICS; MENINGOENCEPHALITIS; METABOLISM; MULTICENTER STUDY; PREVALENCE;

ALLELES; BEHCET SYNDROME; CELLS, CULTURED; CHINA; DNA; ETHNIC GROUPS; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; GENOTYPE; HUMANS; MALE; MICROTUBULE-ASSOCIATED PROTEINS; POLYMORPHISM, GENETIC; PREVALENCE; REAL-TIME POLYMERASE CHAIN REACTION; UVEOMENINGOENCEPHALITIC SYNDROME;

EID: 84952946447     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.15-18035     Document Type: Article

References (50)

1. Moorthy RS, Inomata H, Rao NA. Vogt-Koyanagi-Harada syndrome. Surv Ophthalmol. 1995;39:265-292.
2. Ambrose NL, Haskard DO. Differential diagnosis and management of Behçet syndrome. Nat Rev Rheumatol. 2013;9:79-89.
3. Raziuddin S, al-Dalaan A, Bahabri S, Siraj AK, al-Sedairy S. Divergent cytokine production profile in Behçet’s disease: altered Th1/Th2 cell cytokine pattern. J Rheumatol. 1998;25: 329-333.
4. Hamzaoui K, Hamzaoui A, Guemira F, Bessioud M, Hamza M, Ayed K. Cytokine profile in Behçet’s disease patients: relationship with disease activity. Scand J Rheumatol. 2002; 31:205-210.
5. Chi W, Yang P, Li B, et al. IL-23 promotes CD4þ T cells to produce IL-17 in Vogt-Koyanagi-Harada disease. J Allergy Clin Immunol. 2007;119:1218-1224.
6. Luger D, Silver PB, Tang J, et al. Either a Th17 or a Th1 effector response can drive autoimmunity: condition of disease induction affect dominant effector category. J Exp Med. 2008;205:799-810.
7. Ohno S. Immunological aspects of Behcet’s and Vogt-Koyanagi-Harada’s diseases. Trans Ophthalmol Soc U K. 1981;101:335-341.
8. Clarke AJ, Ellinghaus U, Cortini A, et al. Autophagy is activated in systemic lupus erythematosus and required for plasmablast development. Ann Rheum Dis. 2015;74:912-920.
9. Page N, Gros F, Schall N, et al. HSC70 blockade by the therapeutic peptide P140 affects autophagic processes and endogenous MHCII presentation in murine lupus. Ann Rheum Dis. 2011;70:837-843.
10. Levine B, Mizushima N, Virgin HW. Autophagy in immunity and inflammation. Nature. 2011;469:323-335.
11. Alessandri C, Barbati C, Vacirca D, et al. T lymphocytes from patients with systemic lupus erythematosus are resistant to induction of autophagy. FASEB J. 2012;26:4722-4732.
12. Conway KL, Kuballa P, Khor B, et al. ATG5 regulates plasma cell differentiation. Autophagy. 2013;9:528-537.
13. Pengo N, Scolari M, Oliva L, et al. Plasma cells require autophagy for sustainable immunoglobulin production. Nat Immunol. 2013;14:298-305.
14. Miller BC, Zhao Z, Stephenson LM, et al. The autophagy gene ATG5 plays an essential role in B lymphocyte development. Autophagy. 2008;4:309-314.
15. Gros F, Arnold J, Page N, et al. Macroautophagy is deregulated in murine and human lupus T lymphocytes. Autophagy. 2012; 8:1113-1123.
16. Bhattacharya A, Parillon X, Zeng S, Han S, Eissa NT. Deficiency of autophagy in dendritic cells protects against experimental autoimmune encephalomyelitis. J Biol Chem. 2014;289: 26525-26532.
17. Harley JB, Alarcon-Riquelme ME, Criswell LA, et al. Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci. Nat Genet. 2008;40:204-210.
18. Zhou XJ, Lu XL, Lv JC, et al. Genetic association of PRDM1-ATG5 intergenic region and autophagy with systemic lupus erythematosus in a Chinese population. Ann Rheum Dis. 2011;70:1330-1337.
19. Barrett JC, Hansoul S, Nicolae DL, et al, Genomewide association defines more than 30 distinct susceptibility loci for Crohn’s disease. Nat Genet. 2008;40:955-962.
20. Latiano A, Palmieri O, Cucchiara S, et al. Polymorphism of the IRGM gene might predispose to fistulizing behavior in Crohn’s disease. Am J Gastroenterol. 2009;104:110-116.
21. Henckaerts L, Cleynen I, Brinar M, et al. Genetic variation in the autophagy gene ULK1 and risk of Crohn’s disease. Inflamm Bowel Dis. 2011;17:1392-1397.
22. Anderson CA, Boucher G, Lees CW, et al. Meta analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. Nat Genet. 2011; 43:246-252.
23. Brinar M, Vermeire S, Cleynen I, et al. Genetic variants in autophagy-related genes and granuloma formation in a cohort of surgically treated Crohn’s disease patients. J Crohns Colitis. 2012;6:43-50.
24. Nair RP, Duffin KC, Helms C, et al. Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways. Nat Genet. 2009;41:199-204.
25. Bowes J, Orozco G, Flynn E, et al. Confirmation of TNIP1 and IL23A as susceptibility loci for psoriatic arthritis. Ann Rheum Dis. 2011;70:1641-1644.
26. International Study Group of Behcet’s Disease. Criteria for diagnosis of Behcet’s disease. Lancet. 1990;335:1078-1080.
27. Read RW, Holland GN, Rao NA, et al. Revised diagnostic criteria for Vogt-Koyanagi-Harada disease: report of an international committee on nomenclature. Am J Ophthalmol. 2001;131:647-652.
28. Mayes MD, Bossini-Castillo L, Gorlova O, et al. Immunochip analysis identifies multiple susceptibility loci for systemic sclerosis. Am J Hum Genet. 2014;94:47-61.
29. Martin LJ, Gupta J, Jyothula SS, et al. Functional variant in the autophagy-related 5 gene promotor is associated with childhood asthma. PLoS One. 2012;7:e33454.
30. Hou S, Du L, Lei B, et al. Genome-wide association analysis of Vogt-Koyanagi-Harada syndrome identifies two new susceptibility loci at 1p31.2 and 10q21.3. Nat Genet. 2014;46:1007-1011.
31. Yu H, Liu Y, Bai L, Kijlstra A, Yang P. Predisposition to Behçet’s disease and VKH syndrome by genetic variants of miR-182. J Mol Med. 2014;92:961-967.
32. Song X, Zhang X, Wang X, et al. Tumor suppressor gene PDCD4 negatively regulates autophagy by inhibiting the expression of autophagy-related gene ATG5. Autophagy. 2013;9:743-755.
33. Gianchecchi E, Delfino DV, Fierabracci A. Recent insights on the putative role of autophagy in autoimmune diseases. Autoimmun Rev. 2014;13:231-241.
34. Lee HK, Lund JM, Ramanathan B, Mizushima N, Iwasaki A. Autophagy-dependent viral recognition by plasmacytoid dendritic cells. Science. 2007;315:1398-1401.
35. Pua HH, He YW. Maintaining T lymphocyte homeostasis: another duty of autophagy. Autophagy. 2007;3:266-267.
36. Watanabe K, Ichinose S, Hayashizaki K, Tsubata T. Induction of autophagy by B cell antigen receptor stimulation and its inhibition by costimulation. Biochem Biophys Res Commun. 2008;374:274-281.
37. Kongara S, Karantza V. The interplay between autophagy and ROS in tumorigenesis. Front Oncol. 2012;2:171.
38. Jo YK, Kim SC, Park IJ, et al. Increased expression of ATG10 in colorectal cancer is associated with lymphovascular invasion and lymph node metastasis. PLoS One. 2012;7:e52705.
39. Qin Z, Xue J, He Y, et al. Potentially functional polymorphisms in ATG10 are associated with risk of breast cancer in a Chinese population. Gene. 2013;527:491-495.
40. Lee HK, Mattei LM, Steinberg BE, et al. In vivo requirement for Atg5 in antigen presentation by dendritic cells. Immunity. 2010;32:227-239.
41. Orvedahl A, MacPherson S, Sumpter R Jr, Talloczy Z, Zou Z, Levine B. Autophagy protects against Sindbis virus infection of the central nervous system. Cell Host Microbe. 2010;7:115-127.
42. Guevin C, Manna D, Belanger C, Konan KV, Mak P, Labonte P. Autophagy protein ATG5 interacts transiently with the hepatitis C virus RNA polymerase (NS5B) early during infection. Virology. 2010;405:7.
43. 43. Pyo JO, Jang MH, Kwon YK, et al. Essential roles of Atg5 and FADD in autophagic cell death: dissection of autophagic cell death into vacuole formation and cell death. J Biol Chem. 2005;280:20722-20729.
44. Lopez P, Alonso-Perez E, Rodriguez-Carrio J, Suarez A. Influence of Atg5 mutation in SLE depends on functional IL-10 genotype. PLoS One. 2013;8:e78756.
45. Hedayatfar A. Behçet’s disease: autoimmune or autoinflammatory? J Ophthalmic Vis Res. 2013;8:291-293.
46. Liu Z, Davidson A. Taming lupus- a new understanding of pathogenesis is leading to clinical advances. Nat Medicine. 2012;18:871-882.
47. Gul A. Behçet’s disease: an update on the pathogenesis. Clin Exp Rheumatol. 2001;19:S6-12.
48. Liu K, Zhao E, Ilyas G, et al. Impaired macrophage autophagy increases the immune response in obese mice by promoting proinflammatory macrophage polarization. Autophagy. 2015; 11:271-284.
49. Alirezaei M, Fox HS, Flynn CT, et al. Elevated ATG5 expression in autoimmune demyelination and multiple sclerosis. Autophagy. 2009;5:152-158.
50. Hou S, Yang Z, Du L, et al. Identification of a susceptibility locus in STAT4 for Behçet’s disease in Han Chinese in a genome-wide association study. Arthritis Rheum. 2012;64: 4104–4113.