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18 - Genetics of autoimmune disease

Published online by Cambridge University Press:  17 August 2009

By
John I. Bell  and
Lars Fugger
Edited by
Alan Wright  and
Nicholas Hastie
Alan Wright
Affiliation:
MRC Human Genetics Unit, Edinburgh
Nicholas Hastie
Affiliation:
MRC Human Genetics Unit, Edinburgh
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Summary

Introduction

The autoimmune diseases are disorders where the immune system erroneously targets self-antigens leading to organ specific or systemic tissue damage (Goodnow et al., 2005). These aberrant responses are the results of a breach in tolerance characterized by either cellular or humoral autoreactivity. Examples of autoimmunity occur in most organ systems and include autoimmune responses to the β-cell in the pancreas (Type 1 diabetes), to myelin in the central nervous system (multiple sclerosis), to hepatocytes (chronic active hepatitis), to thyrocytes (Graves' disease or autoimmune thyroiditis), skin (psoriasis or vitiligo), renal basement membrane (Goodpasture's disease), joints (rheumatoid arthritis) or gastrointestinal mucosa (ulcerative colitis or Crohn's disease). Generalized autoimmune diseases such as systemic lupus erythematosus, and system sclerosis also affect multiple organs simultaneously.

Background: genes and environment

The characterization of genetic determinants in disease has been transformed with the availability of the tools and technologies which have emerged from sequencing and characterizing variation in the human genome over the past 20 years. This has allowed the systematic characterization of the genome and the analysis of variation in genetic material in individuals and in families with a range of complex common diseases. The autoimmune diseases represent typical complex diseases with substantial genetic and environmental components (Roderick and Navajas, 2003).

Type
Chapter
Information
Genes and Common Diseases
Genetics in Modern Medicine
 , pp. 268 - 276
Publisher: Cambridge University Press
Print publication year: 2007

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