Association of a Nkx2-3 polymorphism with Crohn's disease and expression of Nkx2-3 is up-regulated in B cell lines and intestinal tissues with Crohn's disease

Journal of Crohn's and Colitis

Volumn 3, Issue 3, 2009, Pages 189-195

  Yu, Wei ^a   Lin, Zhenwu ^a   Kelly, Ashley A ^a   Hegarty, John P ^a   Poritz, Lisa S ^a   Wang, Yunhua ^a   Li, Tongyi ^b   Schreiber, Stefan ^c   Koltun, Walter A ^a  

^a PENN STATE COLLEGE OF MEDICINE   (United States)

^b TOTAL   (France)

^c UNIVERSITY OF KIEL   (Germany)

Author keywords

Crohn's disease; Genetic association; Nkx2 3; rs10883365; Up regulation

Indexed keywords

MESSENGER RNA; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR NKX2.3; UNCLASSIFIED DRUG;

ARTICLE; B LYMPHOCYTE; COLON CROHN DISEASE; CONTROLLED STUDY; CROHN DISEASE; GENE EXPRESSION REGULATION; GENOTYPE; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; PROTEIN EXPRESSION; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; UPREGULATION; WILD TYPE;

EID: 67651085303     PISSN: 18739946     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.crohns.2009.04.003     Document Type: Article

References (30)

1. Thompson N.P., Driscoll R., Pounder R.E., et al. Genetics versus environment in inflammatory bowel disease: results of a British twin study. Br Med J 312 (1996) 95-96
2. Hugot J.P., Chamaillard M., Zouali H., et al. Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. Nature 411 (2001) 599-603
3. Ogura Y., Bonen D.K., Inohara, et al. A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease. Nature 411 (2001) 603-606
4. Rioux J.D., Silverberg M.S., Daly M.J., et al. Genomewide search in Canadian families with inflammatory bowel disease reveals two novel susceptibility loci. Am J Hum Genet 66 (2000) 1863-1870
5. Rioux J.D., Daly M.J., Silverberg M.S., et al. Genetic variation in the 5q31 cytokine gene cluster confers susceptibility to Crohn disease. Nature Genet 29 (2001) 223-228
6. Wellcome Trust Case Control Consortium. Genome-wide association study of 14000 cases of seven common diseases and 3000 shared controls. Nature 447 (2007) 661-678
7. Rioux J.D., Xavier R.J., Taylor K.D., et al. Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis. Nature Genetics 39 (2007) 596-604
8. Parkes M., Barrett J.C., Prescott N.J., et al. Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility. Nat Genet 39 (2007) 830-832
9. Franke A., Balschun T., Karlsen A., et al. Replication of signals from recent studies of Crohn's disease identifies previously unknown disease loci for ulcerative colitis. Nat Genet 40 (2008) 713-715
10. Fisher S.A., Tremelling M., Anderson C.A., et al. Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease. Nat Genet 40 (2008) 710-712
11. Yamazaki K., Takahashi A., Takazoe M., et al. Positive association of genetic variants in the upstream region of NKX2-3 with Crohn's disease in Japanese patients. Gut 58 (2009) 228-232
12. Krumlauf R. Hox genes in vertebrate development. Cell 78 (1994) 191-201
13. Lawrence P.A., and Morata G. Homeobox genes: their function in Drosophila segmentation and pattern formation. Cell 78 (1994) 181-189
14. Buchberger A., Pabst O., Brand T., et al. Chick NKx-2.3 represents a novel family member of vertebrate homologues to Drosophila homeobox gene tinman: differential expression of cNKx-2.3 and cNKx-2.5 during heart and gut development. Mech Dev 56 (1996) 151-163
15. Fu Y., Yan W., Mohun T.J., et al. Vertebrate tinman homologues XNkx2-3 and XNkx2-5 are required for heart formation in a functionally redundant manner. Development 125 (1998) 4439-4449
16. Pabst O., Schneider A., Brand T., et al. The mouse Nkx2-3 homeodomain gene is expressed in gut mesenchyme during pre- and postnatal mouse development. Dev Dyn 209 (1997) 29-35
17. Wang C.C., Biben C., Robb L., et al. Homeodomain factor Nkx2-3 controls regional expression of leukocyte homing coreceptor MAdCAM-1 in specialized endothelial cells of the viscera. Dev Biol. 224 (2000) 152-167
18. Pabst O., Forster R., Lipp M., et al. NKX2.3 is required for MAdCAM-1 expression and homing of lymphocytes in spleen and mucosa-associated lymphoid tissue. EMBO J 19 (2000) 2015-2023
19. Tarlinton D., Light A., Metcalf D., et al. Architectural defects in the spleens of Nkx2-3-deficient mice are intrinsic and associated with defects in both B cell maturation and T cell-dependent immune responses. J Immunol 170 (2003) 4002-4010
20. Koltun W.A., Poritz L.S., Tilberg A.F., et al. The creation of a highly uniform familial inflammatory bowel disease (IBD) registry [Abstract]. Dis Colon Rectum 44 (2001) A3
21. Yu W., Imoto I., Inoue J., et al. A novel amplification target, DUSP26, promotes anaplastic thyroid cancer cell growth by inhibiting p38 MAPK activity. Oncogene 26 (2007) 1178-1187
22. Pabst O., Zweigerdt R., and Arnold H.H. Targeted disruption of the homeobox transcription factor Nkx2-3 in mice results in postnatal lethality and abnormal development of small intestine and spleen. Development 126 (1999) 2215-2225
23. Tarlinton D., Light A., Metcalf D., et al. Architectural defects in the spleens of Nkx2-3-deficient mice are intrinsic and associated with defects in both B cell maturation and T cell dependent immune responses. J Immunol 170 (2003) 4002-4010
24. Connor E.M., Eppihimer M.J., Morise Z., et al. Expression of mucosal addressin cell adhesion molecule-1 (MAdCAM-1) in acute and chronic inflammation. J Leukoc Biol 65 (1999) 349-355
25. Briskin M.D., Winsor-Hines D., Shyian A., et al. Human mucosal addressin cell adhesion molecule-1 is preferentially expressed in intestinal tract and associated lymphoid tissue. Am J Pathol 151 (1997) 97-110
26. Chaplin D.D., and Fu Y. Cytokine regulation of secondary lymphoid organ development. Curr Opin Immunol 10 (1998) 289-297
27. Shinkura R., Kitada K., Matsuda F., et al. Alymphoplasia is caused by a point mutation in the mouse gene encoding NF-kappa B-inducing kinase. Nat Genet 22 (1999) 74-77
28. Baud V., and Karin M. Signal transduction by tumor necrosis factor and its relatives. Trend Cell Biol 11 (2001) 372-377
29. Cuff C.A., Schwartz J., Bergman C.M., et al. Lymphotoxin α3 induces chemokines and adhesion molecules: insight into the role of LTα in inflammation and lymphoid organ development. J Immunol 161 (1998) 6853-6860
30. Takeuchi T., and Baichwal V.R. Induction of the gene encoding mucosal vascular addressin cell adhesion molecule 1 by tumour necrosis factor α is mediated by NF-κB proteins. Proc Natl Acad Sci USA 92 (1995) 3561-3565