Novel association of the interleukin 2-interleukin 21 region with inflammatory bowel disease

American Journal of Gastroenterology

Volumn 104, Issue 8, 2009, Pages 1968-1975

  Márquez, Ana ^a   Orozco, Gisela ^b   Martínez, Alfonso ^a   Palomino Morales, Rogelio ^b   Fernández Arquero, Miguel ^a   Mendoza, Juan Luis ^a   Taxonera, Carlos ^a   Díaz Rubio, Manuel ^a   Gómez García, María ^c   Nieto, Antonio ^d   López Nevot, Miguel A ^c   De La Concha, Emilio G ^a   Martín, Javier ^b   Urcelay, Elena ^a  

^a HOSPITAL CLÍNICO SAN CARLOS   (Spain)

^b INSTITUTO DE PARASITOLOGÍA Y BIOMEDICINA LÓPEZ NEYRA   (Spain)

^c HOSPITAL UNIVERSITARIO VIRGEN DE LAS NIEVES   (Spain)

^d HOSPITAL UNIVERSITARIO PUERTA DEL MAR   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

INTERLEUKIN 2; INTERLEUKIN 2 RECEPTOR ALPHA; INTERLEUKIN 2 RECEPTOR BETA; INTERLEUKIN 21;

ALLELE; ARTICLE; AUTOIMMUNE DISEASE; CHROMOSOME 4Q; CONTROLLED STUDY; CROHN DISEASE; DISEASE PREDISPOSITION; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENETIC ASSOCIATION; GENETIC LINKAGE; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; ULCERATIVE COLITIS;

CASE-CONTROL STUDIES; COLITIS, ULCERATIVE; CROHN DISEASE; HUMANS; INTERLEUKIN-2; INTERLEUKIN-2 RECEPTOR ALPHA SUBUNIT; INTERLEUKIN-2 RECEPTOR BETA SUBUNIT; INTERLEUKINS; POLYMORPHISM, GENETIC; SPAIN;

EID: 68349148370     PISSN: 00029270     EISSN: 15720241     Source Type: Journal    
DOI: 10.1038/ajg.2009.224     Document Type: Article

References (40)

1. Cho JH. The genetics and immunopathogenesis of inflammatory bowel disease. Nat Rev Immunol 2008;8:458-66.
2. Halme L, Paavola-Sakki P, Turunen U et al. Family and twin studies in inflammatory bowel disease. World J Gastroenterol 2006;12:3668-72.
3. Hugot JP, Chamaillard M, Zouali H et al. Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. Nature 2001;411:599-603.
4. Ogura Y, Bonen DK, Inohara N et al. A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease. Nature 2001;411:603-6.
5. Wellcome Trust Case Control Consortium. Genome-wide association study of 14, 00. cases of seven common diseases and 3, 00. shared controls. Nature 2007;447:661-78.
6. Duerr RH. Genome-wide association studies herald a newera of rapid discoveries in inflammatory bowel disease research. Gastroenterology 2007;132:2045-9.
7. Duerr RH, Taylor KD, Brant SR et al. A genome-wide association study identifies IL 23. as an inflammatory bowel disease gene. Science 2006;314:1461-3.
8. Hampe J, Franke A, Rosenstiel P et al. A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L 1. Nat Genet 2007;39:207-11.
9. Libioulle C, Louis E, Hansoul S et al. Novel Crohn disease locus identified by genome-wide association maps to a gene desert on 5p13.1 and modulates expression of PTGER 4. PLoS Genet 2007; 3.e58.
10. Rioux JD, Xavier RJ, Taylor KD et al. Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis. Nat Genet 2007;39:596-604.
11. Cummings JR, Ahmad T, Geremia A et al. Contribution of the novel inflammatory bowel disease gene IL 23. to disease susceptibility and phenotype. Inflamm Bowel Dis 2007;13:1063-8.
12. Glas J, Konrad A, Schmechel S et al. The ATG16L1 gene variants rs 224187. and rs2241880 (T300A) are strongly associated with susceptibility to Crohn's disease in the German population. Am J Gastroenterol 2008;103:682-91.
13. Oliver J, Rueda B, Lopez-Nevot MA et al. Replication of an association between IL 23. gene polymorphism with inflammatory bowel disease. Clin Gastroenterol Hepatol 2007;5:977-81, (8.e1-e2).
14. Roberts RL, Gearry RB, Hollis-Moff att JE et al. IL 23. R 381. and ATG16L1 T 300. are strongly associated with Crohn's disease in a study of New Zealand Caucasians with inflammatory bowel disease. Am J Gastroenterol 2007;102:2754-61.
15. Cohen R, Robinson D Jr, Paramore C et al. Autoimmune disease concomitance among inflammatory bowel disease patients in the United States, 2001-2002. Inflamm Bowel Dis 2008;14:738-43.
16. Hafler DA, Compston A, Sawcer S et al. Risk alleles for multiple sclerosis identified by a genomewide study. N Engl J Med 2007;357:851-62.
17. van Heel DA, Franke L, Hunt KA et al. A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21. Nat Genet 2007;39:827-9.
18. Nelson BH. IL-2. regulatory T cells, and tolerance. J Immunol 2004;172:3983-8.
19. Kim HP, Imbert J, Leonard WJ. Both integrated and differential regulation of components of the IL-2/IL-2 receptor system. Cytokine Growth Factor Rev 2006;17:349-66.
20. Gaffen SL. Signaling domains of the interleukin 2 receptor. Cytokine 2001;14:63-77.
21. Morgan DA, Ruscetti FW, Gallo R. Selective in vitro growth of T lymphocytes from normal human bone marrows. Science 1976;193:1007-8.
22. Sadlack B, Merz H, Schorle H et al. Ulcerative colitis-like disease in mice with a disrupted interleukin-2 gene. Cell 1993;75:253-61.
23. Suzuki H, Kundig TM, Furlonger C et al. Deregulated T cell activation and autoimmunity in mice lacking interleukin-2 receptor beta. Science 1995;268:1472-6.
24. Burchill MA, Yang J, Vang KB et al. Interleukin-2 receptor signaling in regulatory T cell development and homeostasis. Immunol Lett 2007;114:1-8.
25. Fehervari Z, Yamaguchi T, Sakaguchi S. The dichotomous role of IL-2. tolerance versus immunity. Trends Immunol 2006;27:109-11.
26. Malek TR, Bayer AL. Tolerance, not immunity, crucially depends on IL-2. Nat Rev Immunol 2004;4:665-74.
27. Laurence A, Tato CM, Davidson TS et al. Interleukin-2 signaling via STAT5 constrains T helper 1. cell generation. Immunity 2007;26:371-81.
28. Lennard-Jones JE. Classification of inflammatory bowel disease. Scand J Gastroenterol Suppl 1989;170:2-6, (discussion 16-19).
29. Oliver J, Marquez A, Gomez-Garcia M et al. Association of the macrophage migration inhibitory factor gene polymorphisms with inflammatory bowel disease. Gut 2007;56:150-1.
30. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:1215.
31. Bouma G, Strober W. The immunological and genetic basis of inflammatory bowel disease. Nat Rev Immunol 2003;3:521-33.
32. Parkes M, Satsangi J, Jewell D. Contribution of the IL-2 and IL-1. genes to inflammatory bowel disease (IBD) susceptibility. Clin Exp Immunol 1998;113:28-32.
33. Fisher SA, Tremelling M, Anderson CA et al. Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease. Nat Genet 2008;40:710-2.
34. Zhernakova A, Alizadeh BZ, Bevova M et al. Novel association in chromosome 4q2. region with rheumatoid arthritis and confirmation of type 1 diabetes point to a general risk locus for autoimmune diseases. Am J Hum Genet 2007;81:1284-8.
35. Todd JA, Walker NM, Cooper JD et al. Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. Nat Genet 2007;39:857-64.
36. Fantini MC, Rizzo A, Fina D et al. IL-2. regulates experimental colitis by modulating the balance between Treg and Th 1. cells. Eur J Immunol 2007;37:3155-63.
37. Bettelli E, Korn T, Kuchroo VK. Th 17. the third member of the effector T cell trilogy. Curr Opin Immunol 2007;19:652-7.
38. Brand OJ, Lowe CE, Heward JM et al. Association of the interleukin 2 receptor alpha (IL-2Ralpha)/CD2. gene region with Graves' disease using a multilocus test and tag SNPs. Clin Endocrinol (Oxf) 2007;66:508-12.
39. Vella A, Cooper JD, Lowe CE et al. Localization of a type 1 diabetes locus in the IL2RA/CD2. region by use of tag single-nucleotide polymorphisms. Am J Hum Genet 2005;76:773-9.
40. Lowe CE, Cooper JD, Brusko T et al. Large-scale genetic fine mapping and genotype-phenotype associations implicate polymorphism in the IL2RA region in type 1 diabetes. Nat Genet 2007;39:1074-82.