Investigation of JAK2, STAT3 and CCR6 polymorphisms and their gene-gene interactions in inflammatory bowel disease

International Journal of Immunogenetics

Volumn 39, Issue 3, 2012, Pages 247-252

  Polgar, N ^a   Csongei, V ^b   Szabo, M ^c   Zambo, V ^a   Melegh, B I ^a   Sumegi, K ^a   Nagy, G ^a   Tulassay, Z ^d   Melegh, B ^a  

^a UNIVERSITY OF PÉCS   (Hungary)

^b UNIVERSITY OF PÉCS   (Hungary)

^c Robert Koch Hospital   (Hungary)

^d SEMMELWEIS UNIVERSITY   (Hungary)

Author keywords

[No Author keywords available]

Indexed keywords

CHEMOKINE RECEPTOR CCR6; INTERLEUKIN 23; JANUS KINASE 2; STAT3 PROTEIN;

ADULT; ARTICLE; CONTROLLED STUDY; CROHN DISEASE; DNA POLYMORPHISM; ENTERITIS; FEMALE; GENE INTERACTION; GENETIC ASSOCIATION; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENOTYPE; HOMOZYGOTE; HUMAN; HUNGARY; MAJOR CLINICAL STUDY; MALE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SIGNAL TRANSDUCTION; TH17 CELL; ULCERATIVE COLITIS;

ADULT; COLITIS, ULCERATIVE; CROHN DISEASE; EPISTASIS, GENETIC; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; HUNGARY; INFLAMMATORY BOWEL DISEASES; JANUS KINASE 2; LOGISTIC MODELS; MALE; MIDDLE AGED; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, CCR6; STAT3 TRANSCRIPTION FACTOR;

EID: 84860914913     PISSN: 17443121     EISSN: 1744313X     Source Type: Journal    
DOI: 10.1111/j.1744-313X.2012.01084.x     Document Type: Article

References (30)

1. Achkar, J.P. & Fiocchi, C. (2009) Gene-gene interactions in inflammatory bowel disease: biological and clinical implications. American Journal of Gastroenterology, 104, 1734.
2. Anderson, C.A., Massey, D.C., Barrett, J.C., Prescott, N.J., Tremelling, M., Fisher, S.A. et al. (2009) Investigation of crohn's disease risk loci in ulcerative colitis further defines their molecular relationship. Gastroenterology, 136, 523.
3. Anderson, C.A., Boucher, G., Lees, C.W., Franke, A., D'Amato, M., Taylor, K.D. et al. (2011) Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. Nature Genetics, 43, 246.
4. Barrett, J.C., Hansoul, S., Nicolae, D.L., Cho, J.H., Duerr, R.H., Rioux, J.D. et al. (2008) Genome-wide association defines more than 30 distinct susceptibility loci for crohn's disease. Nature Genetics, 40, 955.
5. Brand, S. (2009) Crohn's disease: Th1, th17 or both? The change of a paradigm: new immunological and genetic insights implicate th17 cells in the pathogenesis of crohn's disease Gut, 58, 1152.
6. Csöngei, V., Járomi, L., Sáfrány, E., Sipeky, C., Magyari, L., Faragó, B. et al. (2010) Interaction of the major inflammatory bowel disease susceptibility alleles in crohn's disease patients. World Journal of Gastroenterology, 16, 176.
7. Duerr, R.H., Taylor, K.D., Brant, S.R., Rioux, J.D., Silverberg, M.S., Daly, M.J. et al. (2006) A genome-wide association study identifies il23r as an inflammatory bowel disease gene. Science, 314, 1461.
8. Ferguson, L.R., Han, D.Y., Fraser, A.G., Huebner, C., Lam, W.J., Morgan, A.R., Duan, H. & Karunasinghe, N. (2010) Genetic factors in chronic inflammation: single nucleotide polymorphisms in the stat-jak pathway, susceptibility to dna damage and crohn's disease in a new zealand population. Mutation Research, 690, 108.
9. Fisher, S.A., Tremelling, M., Anderson, C.A., Gwilliam, R., Bumpstead, S., Prescott, N.J. et al. (2008) Genetic determinants of ulcerative colitis include the ecm1 locus and five loci implicated in crohn's disease. Nature Genetics, 40, 710.
10. Franke, A., Balschun, T., Karlsen, T.H., Hedderich, J., May, S., Lu, T. et al. (2008) Replication of signals from recent studies of crohn's disease identifies previously unknown disease loci for ulcerative colitis. Nature Genetics, 40, 713.
11. Franke, A., McGovern, D.P., Barrett, J.C., Wang, K., Radford-Smith, G.L., Ahmad, T. et al. (2010) Genome-wide meta-analysis increases to 71 the number of confirmed crohn's disease susceptibility loci. Nature Genetics, 42, 1118.
12. Glas, J., Stallhofer, J., Ripke, S., Wetzke, M., Pfennig, S., Klein, W. et al. (2009) Novel genetic risk markers for ulcerative colitis in the il2/il21 region are in epistasis with il23r and suggest a common genetic background for ulcerative colitis and celiac disease. American Journal of Gastroenterology, 104, 1737.
13. Halfvarson, J. (2011) Genetics in twins with crohn's disease: less pronounced than previously believed? Inflammatory Bowel Diseases, 17, 6.
14. Hampe, J., Franke, A., Rosenstiel, P., Till, A., Teuber, M., Huse, K. et al. (2007) A genome-wide association scan of nonsynonymous snps identifies a susceptibility variant for crohn disease in atg16l1. Nature Genetics, 39, 207.
15. Imielinski, M., Baldassano, R.N., Griffiths, A., Russell, R.K., Annese, V., Dubinsky, M. et al. (2009) Common variants at five new loci associated with early-onset inflammatory bowel disease. Nature Genetics, 41, 1335.
16. Lees, C.W., Barrett, J.C., Parkes, M. & Satsangi, J. (2011) New ibd genetics: common pathways with other diseases. Gut, 60, 1739.
17. Mathew, C.G. & Lewis, C.M. (2004) Genetics of inflammatory bowel disease: progress and prospects. Human Molecular Genetics, 13(Spec No 1), R161.
18. McGovern, D. & Powrie, F. (2007) The il23 axis plays a key role in the pathogenesis of ibd. Gut, 56, 1333.
19. Monsén, U., Bernell, O., Johansson, C. & Hellers, G. (1991) Prevalence of inflammatory bowel disease among relatives of patients with crohn's disease. Scandinavian Journal of Gastroenterology, 26, 302.
20. Moore, J.H. (2003) The ubiquitous nature of epistasis in determining susceptibility to common human diseases. Human Heredity, 56, 73.
21. Moore, J.H. (2005) A global view of epistasis. Nature Genetics, 37, 13.
22. Nelis, M., Esko, T., Mägi, R., Zimprich, F., Zimprich, A., Toncheva, D. et al. (2009) Genetic structure of europeans: a view from the north-east. PLoS ONE, 4, e5472.
23. Rioux, J.D., Xavier, R.J., Taylor, K.D., Silverberg, M.S., Goyette, P., Huett, A. et al. (2007) Genome-wide association study identifies new susceptibility loci for crohn disease and implicates autophagy in disease pathogenesis. Nature Genetics, 39, 596.
24. Sato, K., Shiota, M., Fukuda, S., Iwamoto, E., Machida, H., Inamine, T. et al. (2009) Strong evidence of a combination polymorphism of the tyrosine kinase 2 gene and the signal transducer and activator of transcription 3 gene as a dna-based biomarker for susceptibility to crohn's disease in the japanese population. Journal of Clinical Immunology, 29, 815.
25. Török, H.P., Glas, J., Endres, I., Tonenchi, L., Teshome, M.Y., Wetzke, M. et al. (2009) Epistasis between toll-like receptor-9 polymorphisms and variants in nod2 and il23r modulates susceptibility to crohn's disease. American Journal of Gastroenterology, 104, 1723.
26. Tremelling, M., Cummings, F., Fisher, S.A., Mansfield, J., Gwilliam, R., Keniry, A. et al. (2007) Il23r variation determines susceptibility but not disease phenotype in inflammatory bowel disease. Gastroenterology, 132, 1657.
27. Tysk, C., Lindberg, E., Järnerot, G. & Flodérus-Myrhed, B. (1988) Ulcerative colitis and crohn's disease in an unselected population of monozygotic and dizygotic twins. A study of heritability and the influence of smoking. Gut, 29, 990.
28. Vanbervliet, B., Homey, B., Durand, I., Massacrier, C., Aït-Yahia, S., de Bouteiller, O., Vicari, A. & Caux, C. (2002) Sequential involvement of ccr2 and ccr6 ligands for immature dendritic cell recruitment: possible role at inflamed epithelial surfaces. European Journal of Immunology, 32, 231.
29. Xavier, R.J. & Podolsky, D.K. (2007) Unravelling the pathogenesis of inflammatory bowel disease. Nature, 448, 427.
30. Yang, X.O., Panopoulos, A.D., Nurieva, R., Chang, S.H., Wang, D., Watowich, S.S. & Dong, C. (2007) Stat3 regulates cytokine-mediated generation of inflammatory helper t cells. Journal of Biological Chemistry, 282, 9358.