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J Hepatol. 2015 Apr;62(1 Suppl):S6-S14. doi: 10.1016/j.jhep.2015.02.025.

Genetics of liver disease: From pathophysiology to clinical practice.

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Norwegian PSC Research Center and Section for Gastroenterology, Department of Transplantation Medicine, Division of Cancer Medicine, Surgery and Transplantation, Oslo University Hospital, Rikshospitalet, Oslo, Norway; Institute of Clinical Medicine, University of Oslo, Oslo, Norway.
Department of Medicine II, Saarland University Medical Center, Homburg, Germany; Saarland University, Saarbr├╝cken, Germany. Electronic address:
Institute of Liver Studies, Division of Transplantation Immunology and Mucosal Biology, King's College London, London, United Kingdom.


Paralleling the first 30 years of the Journal of Hepatology we have witnessed huge advances in our understanding of liver disease and physiology. Genetic advances have played no small part in that. Initial studies in the 1970s and 1980s identified the strong major histocompatibility complex associations in autoimmune liver diseases. During the 1990 s, developments in genomic technologies drove the identification of genes responsible for Mendelian liver diseases. Over the last decade, genome-wide association studies have allowed for the dissection of the genetic susceptibility to complex liver disorders, in which also environmental co-factors play important roles. Findings have allowed the identification and elaboration of pathophysiological processes, have indicated the need for reclassification of liver diseases and have already pointed to new disease treatments. In the immediate future genetics will allow further stratification of liver diseases and contribute to personalized medicine. Challenges exist with regard to clinical implementation of rapidly developing technologies and interpretation of the wealth of accumulating genetic data. The historical perspective of genetics in liver diseases illustrates the opportunities for future research and clinical care of our patients.


Human genetics; Mendelian disease; Multifactorial disease

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