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

Orphanet Journal of Rare Diseases

Ikechi Okpechi¹  Adebowale Adeyemo²  Nicki Tiffin³ 

[1] Division of Nephrology and Hypertension, Department of Medicine, University of Cape Town, Cape Town, South Africa;Centre for Research on Genomics and Global Health, National Human Genome Research Institute, Bethesda, MD, USA;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

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

Others  :  864163
DOI  :  10.1186/1750-1172-8-2

 received in 2012-11-12, accepted in 2013-01-01,  发布年份 2013

【 摘 要 】

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.

【 授权许可】

   
2013 Tiffin et al.; licensee BioMed Central Ltd.

【 图 表 】

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