Keratin 8 Y54H and G62C mutations are not associated with inflammatory bowel disease

Digestive and Liver Disease

Volumn 36, Issue 6, 2004, Pages 388-391

  Büning, Carsten ^a   Halangk, J ^a   Dignass, A ^a   Ockenga, J ^a   Deindl, P ^a   Nickel, R ^a   Genschel, J ^a   Landt, O ^b   Lochs, H ^a   Schmidt, H ^a   Witt, H ^a  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b TIB MOLBIOL   (Germany)

Author keywords

Crohn's disease; Inflammatory bowel disease; Keratin 8; Ulcerative colitis

Indexed keywords

CYTOKERATIN 8; KERATIN; KRT8 PROTEIN, HUMAN;

ADOLESCENT; ADULT; AGED; ARTICLE; CONTROLLED STUDY; CROHN DISEASE; ENTERITIS; FEMALE; FLUORESCENCE RESONANCE ENERGY TRANSFER; GENE MUTATION; GENETIC ASSOCIATION; GERMANY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; MELTING POINT; MISSENSE MUTATION; MOLECULAR PROBE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PHENOTYPE; POLYMERASE CHAIN REACTION; ULCERATIVE COLITIS; CASE CONTROL STUDY; GENETICS; HETEROZYGOTE; MIDDLE AGED;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; CASE-CONTROL STUDIES; DNA MUTATIONAL ANALYSIS; FEMALE; HETEROZYGOTE; HUMANS; INFLAMMATORY BOWEL DISEASES; KERATIN-8; KERATINS; MALE; MIDDLE AGED; MUTATION, MISSENSE;

EID: 6344224671     PISSN: 15908658     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.dld.2004.01.020     Document Type: Article

References (19)

1. Podolsky DK. Inflammatory bowel disease. N Engl J Med 2002;347:417-29.
2. Bonen DK, Cho JH. The genetics of inflammatory bowel disease. Gastroenterology 2003;124:521-36.
3. Hugot JP, Chamaillard M, Zouali H, Lesage S, Cezard JP, Belaiche J, 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, Nicolae DL, Chen FF, Ramos R, et al. A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease. Nature 2001;411:603-6.
5. Coulombe PA, Omary MB. 'Hard' and 'soft' principles defining the structure, function and regulation of keratin intermediate filaments. Curr Opin Cell Biol 2002;14:110-22.
6. Baribault H, Penner J, Iozzo RV, Wilson-Heiner M. Corectal hyperplasia and inflammation in keratin 8-deficient FVB/N mice. Genes Dev 1994;8:2964-73.
7. Caulin C, Ware CF, Magin TM, Oshima RG. Keratin-dependent, epithelial resistance to tumor necrosis factor-induced apoptosis. J Cell Biol 2000;149:17-22.
8. Hanauer SB, Feagan BG, Lichtenstein GR, Mayer LF, Schreiber S, Colombel JF, et al. Maintenance infliximab for Crohn's disease: The ACCENT I randomised trial. Lancet 2002;359:1541-9.
9. Ku NO, Gish R, Wright TL, Omary MB. Keratin 8 mutations in patients with cryptogenic liver disease. N Engl J Med 2001;344:1580-7.
10. Cavestro GM, Frulloni L, Nouvenne A, Neri TM, Calore B, Ferri B, et al. Association of keratin 8 gene mutation with chronic pancreatitis. Dig Liver Dis 2003;35:416-20.
11. Malchow H, Ewe K, Brandes JW, Goebell H, Ehms H, Sommer H, et al. European Cooperative Crohn's Disease Study (ECCDS): Results of drug treatment. Gastroenterology 1984;86:249-66.
12. Baribault H, Price J, Miyai K, Oshima RG. Mid-gestational lethality in mice lacking keratin 8. Genes Dev 1993;7:1191-202.
13. Tumer Z, Croucher PJ, Jensen LR, Hampe J, Hansen C, Kalscheuer V, et al. Genomic structure, chromosome mapping and expression analysis of the human AVIL gene, and its exclusion as a candidate for locus for inflammatory bowel disease at 12q13-14 (IBD2). Gene 2002;288:179-85.
14. van Heel DA, Carey AH, Jewell DP. Identification of novel polymorphisms in the beta7 integrin gene: Family-based association studies in inflammatory bowel disease. Genes Immun 2001;2:455-60.
15. Hampe J, Hermann B, Bridger S, MacPherson AJ, Mathew CG, Schreiber S. The interferon-gamma gene as a positional and functional candidate gene for inflammatory bowel disease. Int J Colorectal Dis 1998;13:260-3.
16. Stokkers PC, Huibregtse Jr K, Leegwater AC, Reitsma PH, Tytgat GN, van Deventer SJ. Analysis of a positional candidate gene for inflammatory bowel disease: NRAMP2. Inflamm Bowel Dis 2000;6:92-8.
17. de Jong DJ, Franke B, Naber AH, Willemen JJ, Heister AJ, Brunner HG, et al. No evidence for involvement of IL-4R and CD11B from the IBD1 region and STAT6 in the IBD2 region in Crohn's disease. Eur J Hum Genet 2003;11:884-7.
18. Xia B, Crusius JB, Wu J, Zwiers A, van Bodegraven AA, Pena AS. Signal transducer and activator of transcription 6 gene G2964A polymorphism and inflammatory bowel disease. Clin Exp Immunol 2003;131:446-50.
19. Simmons JD, Mullighan C, Welsh KI, Jewell DP. Vitamin D receptor gene polymorphism: Association with Crohn's disease susceptibility. Gut 2000;47:211-4.