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the genetics of lupus a functional perspective红斑狼疮的基因功能的视角
Guerra et al. Arthritis Research Therapy 2012, 14:211
/content/14/3/211
R E V I E W
The genetics of lupus: a functional perspective
1,2 1,2 1,2
Sandra G Guerra , Timothy J Vyse and Deborah S Cunninghame Graham*
(IC) deposition [1]. SLE has a prevalence of approximately
Abstract 1 in 2,500 in European populations [2] and is more
Systemic lupus erythematosus (SLE) is an autoimmune frequent in those of non-European ancestry. SLE aff ects
disease with a strong genetic component and is predominantly women (the female-to-male ratio is 9:1) of
characterized by chronic inl ammation and the child-bearing age and is characterized by variable clinical
production of anti-nuclear auto-antibodies. In the features, including malar rash, glomerulonephritis,
era of genome-wide association studies (GWASs), arthritis, and neuropsychiatric disease [3]. Although the
elucidating the genetic factors present in SLE has exact etiology of lupus is not fully understood, a strong
been a very successful endeavor; 28 coni rmed disease genetic link has been identifi ed through the use of
susceptibility loci have been mapped. In this review, we association and family studies. h e heritability of SLE is
summarize the current understanding of the genetics approximately 66%; the rates of concordance are 24% to
of lupus and focus on the strongest associated risk 56% in monozygotic twins and 2%
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