Autoimmunity Genetic Factors

Certain individuals are genetically susceptible to developing autoimmune diseases. This susceptibility is associated with multiple genes plus other risk factors. Genetically-predisposed individuals do not always develop autoimmune diseases.

Three main sets of genes are suspected in many autoimmune diseases. These genes are related to:

• Immunoglobulins
• T-cell receptors
• The major histocompatibility complexes (MHC).

The first two, which are involved in the recognition of antigens, are inherently variable and susceptible to recombination. These variations enable the immune system to respond to a very wide variety of invaders, but may also give rise to lymphocytes capable of self-reactivity.

Scientists such as H. McDevitt, G. Nepom, J. Bell and J. Todd have also provided strong evidence to suggest that certain MHC class II allotypes are strongly correlated with specific autoimmune diseases:

• HLA DR2 is strongly positively correlated with Systemic Lupus Erythematosus, narcolepsy and multiple sclerosis, and negatively correlated with DM Type 1.
• HLA DR3 is correlated strongly with Sjögren's syndrome, myasthenia gravis, SLE, and DM Type 1.
• HLA DR4 is correlated with the genesis of rheumatoid arthritis, Type 1 diabetes mellitus, and pemphigus vulgaris.

Fewer correlations exist with MHC class I molecules. The most notable and consistent is the association between HLA B27 and ankylosing spondylitis. Correlations may exist between polymorphisms within class II MHC promoters and autoimmune disease.

The contributions of genes outside the MHC complex remain the subject of research, in animal models of disease (Linda Wicker's extensive genetic studies of diabetes in the NOD mouse), and in patients (Brian Kotzin's linkage analysis of susceptibility to SLE).

Further Reading

• What is Autoimmunity?
• Low-Level Autoimmunity
• Autoimmunity Immunological Tolerance
• Autoimmunity Sex
• Autoimmunity Environmental Factors
• Pathogenesis of Autoimmunity
• Autoimmunity Classification
• Autoimmunity Diagnosis and Treatments

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