Back

The lupus susceptibility allele DRB1*03:01 encodes a disease-driving epitope

Miglioranza Scavuzzi, B.; van Drongelen, V.; Kaur, B.; Callahan Fox, J.; Liu, J.; Mesquita-Ferrari, R. A.; Kahlenberg, J. M.; Farkash, E. A.; Benavides, F.; Miller, F. W.; Sawalha, A.; Holoshitz, J.

2022-05-31 immunology
10.1101/2022.05.31.494172 bioRxiv
Show abstract

The HLA-DRB1*03:01 allele is a major genetic risk factor in systemic lupus erythematosus (SLE), but the mechanistic basis of the association is unclear. Here we show that in the presence of interferon gamma (IFN-{gamma}), a short DRB1*03:01-encoded allelic epitope activates a characteristic lupus transcriptome in mouse and human macrophages. It also triggers a cascade of SLE-associated cellular aberrations, including endoplasmic reticulum stress, unfolded protein response, mitochondrial dysfunction, necroptotic cell death, and production of pro-inflammatory cytokines. Parenteral administration of IFN-{gamma} to naive DRB1*03:01 transgenic mice causes increased serum levels of anti-double stranded DNA antibodies, glomerular immune complex deposition and histopathological renal changes that resemble human lupus nephritis. This study provides evidence for a noncanonical, antigen presentation-independent mechanism of HLA-disease association in SLE and could lay new foundations for our understanding of key molecular mechanisms that trigger and propagate this devastating autoimmune disease.

Matching journals

The top 8 journals account for 50% of the predicted probability mass.

50% of probability mass above

"Similar papers" are the closest papers from that journal in the model's embedding space. They show what the match is built on, but the ranking comes mostly from a classifier over the whole training set, not from these examples alone.