Keratin 8 Y54H and G62C mutations are not associated with inflammatory bowel disease
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Keratin 8 Y54H and G62C mutations are not associated with inflammatory bowel disease. / Büning, C; Halangk, J; Dignass, A; Ockenga, J; Deindl, P; Nickel, R; Genschel, J; Landt, O; Lochs, H; Schmidt, H; Witt, H.
In: DIGEST LIVER DIS, Vol. 36, No. 6, 01.06.2004, p. 388-91.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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TY - JOUR
T1 - Keratin 8 Y54H and G62C mutations are not associated with inflammatory bowel disease
AU - Büning, C
AU - Halangk, J
AU - Dignass, A
AU - Ockenga, J
AU - Deindl, P
AU - Nickel, R
AU - Genschel, J
AU - Landt, O
AU - Lochs, H
AU - Schmidt, H
AU - Witt, H
PY - 2004/6/1
Y1 - 2004/6/1
N2 - BACKGROUND: 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.AIMS: We investigated if these keratin 8 missense mutations were associated with inflammatory bowel disease.PATIENTS: 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.METHODS: Samples were analysed by PCR amplification and subsequent melting curve analysis using fluorescence resonance energy transfer probes.RESULTS: 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.CONCLUSIONS: Our data indicate that both keratin 8 mutations, G62C and Y54H, do not play a relevant pathogenic role in inflammatory bowel disease.
AB - BACKGROUND: 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.AIMS: We investigated if these keratin 8 missense mutations were associated with inflammatory bowel disease.PATIENTS: 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.METHODS: Samples were analysed by PCR amplification and subsequent melting curve analysis using fluorescence resonance energy transfer probes.RESULTS: 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.CONCLUSIONS: Our data indicate that both keratin 8 mutations, G62C and Y54H, do not play a relevant pathogenic role in inflammatory bowel disease.
KW - Adolescent
KW - Adult
KW - Aged
KW - Aged, 80 and over
KW - Case-Control Studies
KW - DNA Mutational Analysis
KW - Female
KW - Heterozygote
KW - Humans
KW - Inflammatory Bowel Diseases
KW - Keratin-8
KW - Keratins
KW - Male
KW - Middle Aged
KW - Mutation, Missense
U2 - 10.1016/j.dld.2004.01.020
DO - 10.1016/j.dld.2004.01.020
M3 - SCORING: Journal article
C2 - 15248378
VL - 36
SP - 388
EP - 391
JO - DIGEST LIVER DIS
JF - DIGEST LIVER DIS
SN - 1590-8658
IS - 6
ER -