Nature Communications (Mar 2021)
Global discovery of lupus genetic risk variant allelic enhancer activity
- Xiaoming Lu,
- Xiaoting Chen,
- Carmy Forney,
- Omer Donmez,
- Daniel Miller,
- Sreeja Parameswaran,
- Ted Hong,
- Yongbo Huang,
- Mario Pujato,
- Tareian Cazares,
- Emily R. Miraldi,
- John P. Ray,
- Carl G. de Boer,
- John B. Harley,
- Matthew T. Weirauch,
- Leah C. Kottyan
Affiliations
- Xiaoming Lu
- Center for Autoimmune Genomics and Etiology, Cincinnati Children’s Hospital Medical Center
- Xiaoting Chen
- Center for Autoimmune Genomics and Etiology, Cincinnati Children’s Hospital Medical Center
- Carmy Forney
- Center for Autoimmune Genomics and Etiology, Cincinnati Children’s Hospital Medical Center
- Omer Donmez
- Center for Autoimmune Genomics and Etiology, Cincinnati Children’s Hospital Medical Center
- Daniel Miller
- Center for Autoimmune Genomics and Etiology, Cincinnati Children’s Hospital Medical Center
- Sreeja Parameswaran
- Center for Autoimmune Genomics and Etiology, Cincinnati Children’s Hospital Medical Center
- Ted Hong
- Center for Autoimmune Genomics and Etiology, Cincinnati Children’s Hospital Medical Center
- Yongbo Huang
- Center for Autoimmune Genomics and Etiology, Cincinnati Children’s Hospital Medical Center
- Mario Pujato
- Division of Biomedical Informatics, Cincinnati Children’s Hospital Medical Center
- Tareian Cazares
- Division of Immunobiology, Cincinnati Children’s Hospital Medical Center
- Emily R. Miraldi
- Division of Biomedical Informatics, Cincinnati Children’s Hospital Medical Center
- John P. Ray
- Broad Institute of Massachusetts Institute of Technology (MIT) and Harvard University
- Carl G. de Boer
- Broad Institute of Massachusetts Institute of Technology (MIT) and Harvard University
- John B. Harley
- Center for Autoimmune Genomics and Etiology, Cincinnati Children’s Hospital Medical Center
- Matthew T. Weirauch
- Center for Autoimmune Genomics and Etiology, Cincinnati Children’s Hospital Medical Center
- Leah C. Kottyan
- Center for Autoimmune Genomics and Etiology, Cincinnati Children’s Hospital Medical Center
- DOI
- https://doi.org/10.1038/s41467-021-21854-5
- Journal volume & issue
-
Vol. 12,
no. 1
pp. 1 – 13
Abstract
Thousands of genetic variants have been associated with lupus, but causal variants and mechanisms are unknown. Here, the authors combine a massively parallel reporter assay with genome-wide ChIP experiments to identify risk variants with allelic enhancer activity mediated through transcription factor binding.
