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Immunogenetics of Autoimmune Liver Disease

Risk Factors for Susceptibility and Progression

  • Chapter
Liver Immunology

Abstract

Autoimmune liver diseases are not classical Mendelian autosomal or sex-linked genetic traits. However, there is considerable evidence that our genes play a significant role in determining individual susceptibility to (and progression of) these diseases. In the absence of a “simple” pattern of inheritance, attributable to a single gene locus, autoimmune liver diseases are classified as “genetically complex.” Variation at a gene locus gives rise to a number of alleles. When alleles are rare within a population (less than 1%), they are referred to as mutations. When alleles are common, they are referred to as polymorphisms. To the geneticist, “complex traits” are those in which one or more genes (alleles) acting alone or in concert increase or reduce the risk of a disease or syndrome (1). In Mendelian diseases, the permissive alleles are rare in the normal population (i.e., mutations), whereas in complex diseases, the permissive alleles are common (i.e., polymorphisms). Furthermore, it appears that alleles that are permissive for autoimmunity are not themselves abnormal and may be present in a large proportion of the “healthy” population. This finding suggests that inheritance of a specific allele or group of alleles is neither necessary nor sufficient for disease genesis but will simply increase (or reduce) the likelihood (risk) of disease.

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Authors and Affiliations

  1. Centre for Liver Research, School of Clinical Medical Sciences, The Medical School, University of Newcastle, Newcastle-upon-Ty ne, UK

    Peter Tickell Donaldson BSC, PhD

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  1. Peter Tickell Donaldson BSC, PhD
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Editors and Affiliations

  1. Division of Rheumatology, Allergy and Clinical Immunology, University of California at Davis School of Medicine, Davis, CA

    M. Eric Gershwin MD, FACP

  2. Departments of Medicine and Surgery Baylor Liver Health, Baylor College of Medicine, Houston, TX

    John M. Vierling MD, FACP

  3. Department of Gastroenterology, Hepatology, and Endocrinology, Medical School of Hannover, Hannover, Germany

    Michael P. Manns MD

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Donaldson, P.T. (2007). Immunogenetics of Autoimmune Liver Disease. In: Gershwin, M.E., Vierling, J.M., Manns, M.P. (eds) Liver Immunology. Humana Press. https://doi.org/10.1007/978-1-59745-518-3_18

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  • DOI: https://doi.org/10.1007/978-1-59745-518-3_18

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