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.
Orphanet J Rare Dis. 2013 Jan 7;8:2. doi: 10.1186/1750-1172-8-2.
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.
系统性红斑狼疮(SLE)是一种慢性全身性自身免疫性疾病,临床表现多样,常累及皮肤、关节、造血系统、肾脏、肺和中枢神经系统。当主要器官受累时,可危及生命。尽管已经描述了环境触发因素(如阳光、药物和化学物质以及感染因子)在其中的作用,但这种复杂疾病的全部病理和遗传机制仍有待阐明。细胞过程,如凋亡 DNA 片段的清除效率低下和自身抗体的产生,已被牵连到疾病的进展中。还发现了一系列与疾病相关的基因和 miRNA 调节分子,它们通过多态性和拷贝数变异而失调;并且描述了种族对易感性的影响。
Orphanet J Rare Dis. 2013-1-7
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