Human Molecular Genetics Advance Access originally published online on February 5, 2004
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Human Molecular Genetics, 2004, Vol. 13, Review Issue 1 R143-R148
DOI: 10.1093/hmg/ddh076
The genetic basis of systemic lupus erythematosusknowledge of today and thoughts for tomorrow
Department of Genetics and Pathology, Section for Medical Genetics, Rudbeck Laboratory, Uppsala University, Dag Hammarskjölds väg 20, 751 85, Uppsala, Sweden
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.
* To whom correspondence should be addressed. Tel: +46 184714805; Fax: +46 184714808; Email: marta.alarcon{at}genpat.uu.se
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