Peter K. Gregersen

Homozygosity for hypomorphic IL23R variants (G149R, G300V, R381Q) partly impairs IL-23-dependent IFN-γ production in patient cells; with L372F (effect inferred), they are enriched in tuberculosis, not MSMD or CMC patients.

This study shows DNASE1L3 clears surface DNA on B and T cells, and variants in DNASE1L3 are linked to higher surface DNA levels in autoimmune disease.

This study identifies granzyme K as a driver of a novel complement activation pathway independent of classical, lectin, or alternative pathways.

The paper develops SCENT, a method to create cell-type-specific enhancer-gene maps from single-cell multimodal data, identifying causal variants and genes for diseases.

The paper maps cell-type-specific eQTLs for HLA genes across multiple tissues and identifies dynamic regulation of HLA-DQ genes in immune cells.

The paper identifies rare loss-of-function variants in type I IFN immunity genes associated with severe COVID-19, particularly in younger patients with recessive inheritance.

The paper deconstructs RA synovium using single-cell data to identify six cell type abundance phenotypes associated with distinct inflammatory states.

This study conducts a trans-ancestry GWAS of rheumatoid arthritis, identifying 124 loci, 34 novel, and shows improved polygenic risk score performance across populations.

This study identifies causal variants, cells, genes, and drug targets for type 1 diabetes using large-scale genetic and functional genomic analyses.

The paper identifies dynamic allele-specific expression changes in T cell activation, particularly in HLA genes, showing regulatory effects linked to autoimmune risk.

This study fine-maps RA and T1D loci outside the MHC, identifying causal variants and confirming their functional impact through allele-specific binding and enhancer activity.

The paper introduces BUHMBOX, a statistical method to distinguish pleiotropy from heterogeneity in genetic data, finding shared genetic bases in autoimmune diseases and between MDD and schizophrenia.