| Keratin 8 variants are associated with cryptogenic hepatitis. | |
| | |
MedLine Citation:
|
PMID: 22419260 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
|
Keratins 8 and 18 (K8 and K18) are the cytoskeletal intermediate filament proteins of adult hepatocytes. Murine models indicate that mutations in the K8- and K18-encoding genes predispose to liver injury. Moreover, studies showed an association of K8/K18 variants with human acute and chronic liver diseases. However, only little is known about a putative association of K8/K18 variants with cryptogenic hepatitis, a frequent liver disease of enigmatic etiology, often necessitating liver transplantation. Therefore, we analyzed whether K8 variants associate with cryptogenic hepatitis in a German cohort of patients in comparison to control blood bank donors. Genomic DNA isolated from liver biopsies of cryptogenic hepatitis patients or peripheral blood of healthy donors was analyzed for K8 variants by PCR amplification and direct DNA sequencing. We identified 8 novel heterozygous or homozygous amino acid-altering K8 variants in 5 of 62 cryptogenic hepatitis patients (8.1 %) and in none of 67 controls (P = 0.02). Previously described K8 variants p.G62C and p.R341H were found at similar incidence in cryptogenic hepatitis patients and controls. Hence, they were considered as polymorphisms not associated with liver disease progression. In conclusion, previously undescribed K8 variants associate with cryptogenic hepatitis in a German cohort of patients, possibly predisposing carriers to the development of liver disease. |
| | |
Authors:
|
Mario Zierden; Arndt-Hendrik Penner; Manuel Montesinos-Rongen; Maren Weferling; Uta Drebber; Judith Stift; Jochen W U Fries; Margarete Odenthal; Stephan Rosenkranz; Hans-Peter Dienes |
Publication Detail:
|
Type: JOURNAL ARTICLE Date: 2012-3-15 |
Journal Detail:
|
Title: Virchows Archiv : an international journal of pathology Volume: - ISSN: 1432-2307 ISO Abbreviation: - Publication Date: 2012 Mar |
Date Detail:
|
Created Date: 2012-3-15 Completed Date: - Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 9423843 Medline TA: Virchows Arch Country: - |
Other Details:
|
Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
|
Institute for Pathology, University Hospital of Cologne, 50924, Cologne, Germany, mario.zierden@uni-koeln.de. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
|
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Attenuation of Phosphorylation by Deoxycytidine Kinase is Key to Acquired Gemcitabine Resistance in ...
Next Document: Optimized algorithm for Sanger sequencing-based EGFR mutation analyses in NSCLC biopsies.