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

Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver
C BüningHeiko Witt

Abstract

Keratin 8 is a major component of intermediate filaments in single-layered epithelia of the gastrointestinal tract. Keratin 8 deficient mice display signs of colitis and diarrhoea characteristic for inflammatory bowel disease. Very recently, two keratin 8 mutations, Y54H and G62C, were identified. We investigated if these keratin 8 missense mutations were associated with inflammatory bowel disease. In total, 217 German patients with Crohn' s disease, 131 German patients with ulcerative colitis, and 560 German control subjects were enrolled in this study. Samples were analysed by PCR amplification and subsequent melting curve analysis using fluorescence resonance energy transfer probes. The G62C mutation was detected in five (2.3%) patients presenting with Crohn's disease and in three (2.3%) with ulcerative colitis. In comparison, 9 (1.6%) out of 560 controls were heterozygous for this mutation. No patient or control was homozygous for this mutation. Patients carrying one mutant allele did not show any noticeable characteristics in their corresponding phenotype. In contrast, the Y54H mutation was observed in neither any of the 348 patients with inflammatory bowel disease nor in any control subject. Our data indicate that both ke...Continue Reading

References

Jul 1, 1993·Genes & Development·H BaribaultR G Oshima
Apr 4, 2000·The Journal of Cell Biology·C CaulinR G Oshima
Jun 1, 2000·Inflammatory Bowel Diseases·P C StokkersS J van Deventer
May 24, 2001·The New England Journal of Medicine·N O KuM B Omary
Jun 6, 2002·Lancet·Stephen B HanauerUNKNOWN ACCENT I Study Group
Jul 19, 2003·Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver·G M CavestroG Cavallini

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Citations

Oct 14, 2006·Journal of Molecular Medicine : Official Organ of the Gesellschaft Deutscher Naturforscher Und Ärzte·Matthias TreiberHeiko Witt
Feb 28, 2009·Human Genetics·Meral Julia Arin
Jul 10, 2009·The Journal of Clinical Investigation·M Bishr OmaryShinichiro Hanada
Jul 14, 2004·Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver·D J de Jong, J P H Drenth
Sep 15, 2012·International Journal of Experimental Pathology·Debabrata MajumdarBernard M Corfe
Oct 31, 2007·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·Nam-On KuM Bishr Omary
Nov 6, 2020·The International Journal of Biochemistry & Cell Biology·Lauri PolariDiana M Toivola

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