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Open Access Review

A diverse array of genetic factors contribute to the pathogenesis of Systemic Lupus Erythematosus

Nicki Tiffin1*, Adebowale Adeyemo2 and Ikechi Okpechi3

Author Affiliations

1 South African National Bioinformatics Institute/MRC Unit for Bioinformatics Capacity Development, University of the Western Cape, Private Bag X17, Bellville, Cape Town, 7535, South Africa

2 Centre for Research on Genomics and Global Health, National Human Genome Research Institute, Bethesda, MD, USA

3 Division of Nephrology and Hypertension, Department of Medicine, University of Cape Town, Cape Town, South Africa

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Orphanet Journal of Rare Diseases 2013, 8:2  doi:10.1186/1750-1172-8-2

Published: 7 January 2013

Abstract

Systemic lupus erythematosus (SLE) is a chronic systemic autoimmune disease with variable clinical presentation frequently affecting the skin, joints, haemopoietic system, kidneys, lungs and central nervous system. It can be life threatening when major organs are involved. The full pathological and genetic mechanisms of this complex disease are yet to be elucidated; although roles have been described for environmental triggers such as sunlight, drugs and chemicals, and infectious agents. Cellular processes such as inefficient clearing of apoptotic DNA fragments and generation of autoantibodies have been implicated in disease progression. A diverse array of disease-associated genes and microRNA regulatory molecules that are dysregulated through polymorphism and copy number variation have also been identified; and an effect of ethnicity on susceptibility has been described.

Keywords:
Systemic lupus erythematosus; Autoimmunity; Genetic susceptibility; Apoptosis; dsDNA; Disease genes