This study identifies epigenetic and transcriptional dysregulation in CD4+ T cells of atopic dermatitis patients, linking genetic risk variants to altered chromatin accessibility and NFKB1 binding.

Journal of Allergy and Clinical Immunology · Feb 1, 2022Peer-reviewedGenomics

Genome-wide discovery of lupus genetic risk variant allelic regulatory activity

Xiaoming Lu, Xiaoting Chen, Carmy R. Forney, Omer A. Donmez, Daniel Miller, Sreeja Parameswaran, Ted Hong, Yongbo Huang, Mario Andres Pujato, Tareian A. Cazares, Emily R. Miraldi, John Ray, Carl G. de Boer, John B. Harley, Matthew T. Weirauch, Leah Claire Kottyan

The paper identifies 482 SLE risk variants with enhancer activity and characterizes allelic regulatory mechanisms at 27 risk loci using MPRA.

Nature Communications · Mar 12, 2021Peer-reviewedGenomics

SLE non-coding Genetic Risk Variant Determines the Epigenetic Dysfunction of an Immune Cell Specific Enhancer that Controls Disease-critical microRNA Expression

Guojun Hou, Isaac T. W. Harley, Xiaoming Lu, Tian Zhou, Ning Xu, Chao Yao, Yuting Qin, Ye Ouyang, Jianyang Ma, Xinyi Zhu, Xiang Yu, Hong Xu, Dai Dai, Huihua Ding, Zhihua Yin, , Nan Shen

The paper identifies a non-coding genetic variant associated with SLE that regulates miR-146a expression through a cell-type specific enhancer.

Nature Communications · Jan 8, 2021Peer-reviewedGenetics

Genetic, inflammatory, and epithelial cell differentiation factors control expression of human calpain-14

Daniel E. Miller, Carmy R. Forney, Mark Rochman, Stacey A. Cranert, Jeff E. Habel, Jeffrey K. Rymer, Arthur Lynch, Connor Schroeder, Josh Lee, Amber B. Sauder, Quinton Smith, Mehak Chawla, Michael P. Trimarchi, Xiaoming Lu, Ellen Fjellman, , Leah Claire Kottyan

The paper investigates how genetic, inflammatory, and epithelial cell differentiation factors regulate CAPN14 expression in eosinophilic esophagitis.

G3 Genes Genomes Genetics · Jan 9, 2019Peer-reviewedGenomics