Mind Your Xs and Ys: Genetics of the Autoimmune Disease Systemic Lupus Erythematosus
Steve P. Crampton, Silvia M. Bolland
Abstract
Steve P. Crampton, Silvia M. Bolland
Abstract
Systemic autoimmune diseases are disorders in which a variety of genetic and environmental factors interact to result in a loss of tolerance to self antigens and emergence of pathogenic autoantibodies. Multiple genes contribute to the development of these diseases, modulated by hormonal, environmental and infectious factors. Determining these interactions and their consequences is a fundamental step in elucidating the mechanisms that give rise to disease and will provide insights into methods for effective treatment. Systemic lupus erythematosus (SLE) is one of the most prevalent autoimmune diseases, affecting two million people in the USA. This disease has a 9:1female-to-male bias; symptoms usually arise during women’s child-bearing years [1, 2 ]. Lupus is most common in minority populations, such as African Americans, Latinos and Native Americans. Lupus disease is associated with a wide range of symptoms. In its mildest form, this disease causes general fatigue, fevers and skin rashes. In its most severe form, lupus causes a lethal inflammatory disease that leads to kidney, heart and lung failure. A hallmark of this disease is the presence of anti-nuclear antibodies (ANA) in the serum, which is an indication of B-cell reactivity against common self antigens. Our laboratory is conducting research that aims to understand genetic and environmental causes of lupus disease. We are investigating animal models of lupus disease in order to identify novel susceptibility factors and to discover mechanisms underlying the onset of systemic autoimmune disease. These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
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Systemic autoimmune diseases are disorders in which a variety of genetic and environmental factors interact to result in a loss of tolerance to self antigens and emergence of pathogenic autoantibodies. Multiple genes contribute to the development of these diseases, modulated by hormonal, environmental and infectious factors. Determining these interactions and their consequences is a fundamental step in elucidating the mechanisms that give rise to disease and will provide insights into methods for effective treatment. Systemic lupus erythematosus (SLE) is one of the most prevalent autoimmune diseases, affecting two million people in the USA. This disease has a 9:1female-to-male bias; symptoms usually arise during women’s child-bearing years [1, 2 ]. Lupus is most common in minority populations, such as African Americans, Latinos and Native Americans. Lupus disease is associated with a wide range of symptoms. In its mildest form, this disease causes general fatigue, fevers and skin rashes. In its most severe form, lupus causes a lethal inflammatory disease that leads to kidney, heart and lung failure. A hallmark of this disease is the presence of anti-nuclear antibodies (ANA) in the serum, which is an indication of B-cell reactivity against common self antigens. Our laboratory is conducting research that aims to understand genetic and environmental causes of lupus disease. We are investigating animal models of lupus disease in order to identify novel susceptibility factors and to discover mechanisms underlying the onset of systemic autoimmune disease. These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
Key concepts: Systemic lupus erythematosus, Disease, Immunology, Autoantibody, Autoimmune disease, Medicine, Autoimmunity, Genetic predisposition