Article
SLE non-coding genetic risk variant determines the epigenetic dysfunction of an immune cell specific enhancer that controls disease-critical microRNA expression.
Nature communications - 8 Jan 2021
Hou Guojun, Harley Isaac T W, Lu Xiaoming, Zhou Tian, Xu Ning, Yao Chao, Qin Yuting, Ouyang Ye, Ma Jianyang, Zhu Xinyi, Yu Xiang, Xu Hong, Dai Dai, Ding Huihua, Yin Zhihua, Ye Zhizhong, Deng Jun, Zhou Mi, Tang Yuanjia, Namjou Bahram, Guo Ya, Weirauch Matthew T, Kottyan Leah C, Harley John B, Shen Nan
Abstract excerpt
Since most variants that impact polygenic disease phenotypes localize to non-coding genomic regions, understanding the consequences of regulatory element variants will advance understanding of human disease mechanisms. Here, we report that the systemic lupus erythematosus (SLE) risk variant rs2431697 as likely causal for SLE through disruption of a regulatory element, modulating miR-146a expression. Using...
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