Nature Communications (Apr 2022)

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

  • Tian Zhou,
  • Xinyi Zhu,
  • Zhizhong Ye,
  • Yong-Fei Wang,
  • Chao Yao,
  • Ning Xu,
  • Mi Zhou,
  • Jianyang Ma,
  • Yuting Qin,
  • Yiwei Shen,
  • Yuanjia Tang,
  • Zhihua Yin,
  • Hong Xu,
  • Yutong Zhang,
  • Xiaoli Zang,
  • Huihua Ding,
  • Wanling Yang,
  • Ya Guo,
  • John B. Harley,
  • Bahram Namjou,
  • Kenneth M. Kaufman,
  • Leah C. Kottyan,
  • Matthew T. Weirauch,
  • Guojun Hou,
  • Nan Shen

DOI
https://doi.org/10.1038/s41467-022-29514-y
Journal volume & issue
Vol. 13, no. 1
pp. 1 – 16

Abstract

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The functional effects of genetic loci associated with autoimmune disease are not well understood. By dissecting an autoimmune disease genetic locus, the authors define an immune cell-type-specific enhancer and the molecular mechanisms underlying the dysregulation of IRF8 expression by lupus risk variants.