Semin Liver Dis 2007; 27(1): 028-043
DOI: 10.1055/s-2006-960169
Copyright © 2007 by Thieme Medical Publishers, Inc., 333 Seventh Avenue, New York, NY 10001, USA.

Genomics of Liver Fibrosis and Cirrhosis

Christoph H. Österreicher1 , Felix Stickel2 , David A. Brenner1
  • 1Department of Medicine, Division of Digestive and Liver Diseases, Columbia University, New York, New York
  • 2Institute of Clinical Pharmacology, University of Berne, Switzerland
Further Information

Publication History

Publication Date:
12 February 2007 (online)

ABSTRACT

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.

REFERENCES

David A Brenner, M.D. 

Columbia University Medical Center, College of Physicians and Surgeons

622 West 168th Street, PH 8E-105J, New York, NY 10032