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Orphanet J Rare Dis. 2013 Jan 7;8:2. doi: 10.1186/1750-1172-8-2.

A diverse array of genetic factors contribute to the pathogenesis of systemic lupus erythematosus.

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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. nicki@sanbi.ac.za

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.

PMID:
23289717
PMCID:
PMC3551738
DOI:
10.1186/1750-1172-8-2
[Indexed for MEDLINE]
Free PMC Article
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