Genomics of liver fibrosis and cirrhosis

Osterreicher, Christoph H; Stickel, Felix; Brenner, David A (2007). Genomics of liver fibrosis and cirrhosis. Seminars in liver disease, 27(1), pp. 28-43. New York, N.Y.: Thieme Medical Publishers 10.1055/s-2006-960169

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Hepatic fibrosis is the response to chronic injury from viral, toxic, metabolic, cholestatic, or autoimmune liver injury. However, only a minority of affected individuals develop advanced fibrosis or cirrhosis, suggesting that modifiers determine the individual risk. Aside from well-established progression factors including gender, duration of exposure to the disease, and ethnicity, unknown host genetic factors are likely to influence disease progression and prognosis. Potential genetic susceptibility loci are single nucleotide polymorphisms in fibrosis-associated genes, point mutations, microsatellites, and haplotype blocks composed of genes pivotal for fibrosis development. However, the study of complex polygenetic diseases poses numerous pitfalls in contrast to the elucidation of monogenetic (i.e., Mendelian) diseases. Many publications on the role of certain genetic variants in modulating the progression of hepatic fibrosis have been limited by inadequate study design and low statistical power. At present, powerful research strategies are being developed that allow the application of knowledge derived from the successful sequencing of the human genome that will help to translate our newly acquired insight into practical improvements for research activities and medical practice.

Item Type:

Journal Article (Further Contribution)


04 Faculty of Medicine > Department of Gastro-intestinal, Liver and Lung Disorders (DMLL) > Clinic of Visceral Surgery and Medicine > Hepatology

UniBE Contributor:

Stickel, Felix






Thieme Medical Publishers




Factscience Import

Date Deposited:

04 Oct 2013 14:54

Last Modified:

17 Mar 2015 22:00

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URI: (FactScience: 38075)

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