Article
A missense variant in NCF1 is associated with susceptibility to multiple autoimmune diseases.
Nature genetics - 1 Mar 2017
Zhao Jian, Ma Jianyang, Deng Yun, Kelly Jennifer A, Kim Kwangwoo, Bang So-Young, Lee Hye-Soon, Li Quan-Zhen, Wakeland Edward K, Qiu Rong, Liu Mengru, Guo Jianping, Li Zhanguo, Tan Wenfeng, Rasmussen Astrid, Lessard Christopher J, Sivils Kathy L, Hahn Bevra H, Grossman Jennifer M, Kamen Diane L, Gilkeson Gary S, Bae Sang-Cheol, Gaffney Patrick M, Shen Nan, Tsao Betty P
Abstract excerpt
Systemic lupus erythematosus (SLE) is a heterogeneous autoimmune disease with a strong genetic component characterized by autoantibody production and a type I interferon signature. Here we report a missense variant (g.74779296G>A; p.Arg90His) in NCF1, encoding the p47phox subunit of the phagocyte NADPH oxidase (NOX2), as the putative underlying causal variant that drives a strong SLE-associated signal detected by...
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