Lupus enhancer risk variant causes dysregulation of IRF8 through cooperative lncRNA and DNA methylation machinery

• Published in: Nature communications Vol. 13; no. 1; pp. 1855 - 16
• Main Authors: Zhou, Tian, Zhu, Xinyi, Ye, Zhizhong, Wang, Yong-Fei, Yao, Chao, Xu, Ning, Zhou, Mi, Ma, Jianyang, Qin, Yuting, Shen, Yiwei, Tang, Yuanjia, Yin, Zhihua, Xu, Hong, Zhang, Yutong, Zang, Xiaoli, Ding, Huihua, Yang, Wanling, Guo, Ya, Harley, John B., Namjou, Bahram, Kaufman, Kenneth M., Kottyan, Leah C., Weirauch, Matthew T., Hou, Guojun, Shen, Nan
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 06.04.2022; Nature Publishing Group; Nature Portfolio
• Subjects: 38/15; 49/39; 49/47; 49/91; 631/208/176/1988; 631/208/177; 631/208/200; 631/208/4041/3196; 692/4023/1670/1613; Autoimmune diseases; Autoimmune Diseases - genetics; Chromatin; CRISPR; DNA methylation; DNA Methylation - genetics; Gene expression; Gene loci; Genetic diversity; Genetic variance; Humanities and Social Sciences; Humans; Immune system; Interferon Regulatory Factors - genetics; Interferon Regulatory Factors - metabolism; Lupus; Mixed Function Oxygenases - metabolism; Molecular modelling; multidisciplinary; Proto-Oncogene Proteins - metabolism; PU.1 protein; Regulatory Sequences, Nucleic Acid; Risk; RNA, Long Noncoding - genetics; RNA, Long Noncoding - metabolism; Science; Science (multidisciplinary); Systemic lupus erythematosus; Transcription factors

Despite strong evidence that human genetic variants affect the expression of many key transcription factors involved in autoimmune diseases, establishing biological links between non-coding risk variants and the gene targets they regulate remains a considerable challenge. Here, we combine genetic, e...