The genetic basis of systemic lupus erythematosus--knowledge of today and thoughts for tomorrow.
Systemic lupus erythematosus (SLE) is a chronic rheumatic disease with an autoimmune etiology. Nuclear components of the cells are the main targets of the autoimmune reaction, affecting virtually any organ in the body. SLE is also called a prototype disease due to a substantial overlap in its clinical symptoms with other autoimmune diseases. Therefore the understanding of the mechanisms underlying SLE may contribute to advances in studies and development of new treatments for several autoimmune diseases. SLE is a complex disease with both genetic factors (mutations or susceptibility alleles) and environmental factors (infections, drugs, stress, exposures, etc.) contributing to its development. In this article we will give an overview of the latest findings in genetics of SLE, concentrating on the two most interesting and promising pathways: the PD-1 and the interferon pathways.
Prokunina
Ludmila
L
Department of Genetics and Pathology, Section of Medical Genetics, Rudbeck Laboratory, Uppsala University, Dag Hammarskjölds väg 20, 751 85, Uppsala, Sweden.
Alarcon-Riquelme
Marta
M
D015703:Antigens, CD; D000954:Antigens, Surface / Q000235:genetics* / Q000378:metabolism; D051017:Apoptosis Regulatory Proteins; D008040:Genetic Linkage; D005820:Genetic Testing; D006801:Humans; D016898:Interferon-alpha / Q000502:physiology; D008180:Lupus Erythematosus, Systemic / Q000235:genetics* / Q000276:immunology / Q000378:metabolism; D061026:Programmed Cell Death 1 Receptor; D015398:Signal Transduction
D015703:Antigens, CD; D000954:Antigens, Surface; D051017:Apoptosis Regulatory Proteins; D016898:Interferon-alpha; C105992:PDCD1 protein, human; D061026:Programmed Cell Death 1 Receptor