Maria Gutierrez-Arcelus

Nov 29, 2023 | nature.com | Aparna Nathan |fan zhang |Anna Jonsson |Karthik A. Jagadeesh |Kushal Dey |Joseph Powell | +4 more

AbstractThe human leukocyte antigen (HLA) locus plays a critical role in complex traits spanning autoimmune and infectious diseases, transplantation and cancer. While coding variation in HLA genes has been extensively documented, regulatory genetic variation modulating HLA expression levels has not been comprehensively investigated. Here we mapped expression quantitative trait loci (eQTLs) for classical HLA genes across 1,073 individuals and 1,131,414 single cells from three tissues.

Nov 8, 2023 | nature.com | fan zhang |Anna Jonsson |Michelle Curtis |Maria Gutierrez-Arcelus |Javier Rangel-Moreno |Kathryne E. Marks | +18 more

AbstractRheumatoid arthritis is a prototypical autoimmune disease that causes joint inflammation and destruction1. There is currently no cure for rheumatoid arthritis, and the effectiveness of treatments varies across patients, suggesting an undefined pathogenic diversity1,2. Here, to deconstruct the cell states and pathways that characterize this pathogenic heterogeneity, we profiled the full spectrum of cells in inflamed synovium from patients with rheumatoid arthritis.