The genetics of type I interferon in systemic lupus erythematosus

被引:85
|
作者
Bronson, Paola G. [1 ]
Chaivorapol, Christina [2 ]
Ortmann, Ward [1 ]
Behrens, Timothy W. [1 ]
Graham, Robert R. [1 ]
机构
[1] Genentech Inc, Dept Human Genet, San Francisco, CA 94080 USA
[2] Genentech Inc, Dept Bioinformat & Computat Biol, San Francisco, CA 94080 USA
关键词
PLASMACYTOID DENDRITIC CELLS; GENOME-WIDE ASSOCIATION; REGULATORY FACTOR 5; AICARDI-GOUTIERES-SYNDROME; ACTIVATE B-CELLS; PERIPHERAL-BLOOD; IFN-ALPHA; DISEASE-ACTIVITY; ANTI-INTERFERON; FUNCTIONAL VARIANTS;
D O I
10.1016/j.coi.2012.07.008
中图分类号
R392 [医学免疫学]; Q939.91 [免疫学];
学科分类号
100102 ;
摘要
The discovery that type I interferon (IFN)-inducible genes were strongly upregulated in peripheral blood in SLE over a decade ago sparked interest in understanding the relationship between type I IFN and SLE. Genome-wide association studies provide strong genetic evidence that type I IFNs are important for SLE risk. Of 47 genetic variants associated with SLE, over half (27/47,57%) can be linked to type I IFN production or signaling. The recent identification of single gene mutations for disorders that share features with SLE - Aicardi-Goutieres syndrome, chilblain lupus, and spondyloenchondrodysplasia - provide additional support for the hypothesis that type I IFNs are central drivers of SLE pathogenesis. These insights provide significant focus for efforts to tackle SLE therapeutically.
引用
收藏
页码:530 / 537
页数:8
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