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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.
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