John Bowes

This paper identifies 41 risk loci for juvenile idiopathic arthritis, including 14 novel ones, and presents a polygenic risk score associated with age of onset, along with functional mechanisms involving DNA topology and an HLA-A*02:01-ERAP2 interaction.

This study identifies genetic risk factors associated with severe psoriasis and shows that polygenic risk scores can predict severe disease outcomes better than traditional risk factors.

This study identifies causal genes and mechanisms for juvenile idiopathic arthritis by integrating GWAS, PCHi-C, ATAC-seq, and CRISPRa/i in CD4+ T cells from JIA patients.

This study performs a GWAS meta-analysis of psoriasis, identifying 109 susceptibility loci, including 45 new ones, and highlights potential therapeutic targets and disease mechanisms.

The paper identifies a regulatory pathway involving rs7034653, FRA2, and TRAF1 that explains how a non-coding variant increases risk of inflammatory arthritis.

The paper identifies causal SNPs near ERAP2 that regulate its expression through long-range chromatin interactions, linking autoimmune disease risk variants to enhancer activity.

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

The paper investigates the overlap between RA susceptibility loci and lncRNA annotations, finding that immune-enriched lncRNA show a small but significant enrichment among RA variants.

The paper introduces a method to reduce dimensions of GWAS summary data for related traits, identifying genetic risk patterns and enabling functional characterisation of components.

The paper identifies shared and distinct genetic risk variants across four autoimmune diseases using colocalization methods with shared control data, revealing novel associations and complex patterns.