Susan D. Thompson

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.

The paper identifies candidate causal SNPs and target genes in CD4+ T cells for juvenile idiopathic arthritis using GWAS data, chromatin accessibility, and functional assays.

The paper identifies disease-driving SNPs in JIA risk haplotypes using functional genomic data and genotyping, and links them to target genes through chromatin interactions.

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.