James N. Jarvis

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.

This study compares 3D chromatin structures of pediatric and adult B cells, finding similar architectures across age groups and suggesting adult datasets may suffice for studying pediatric autoimmune diseases.

The paper uses chromatin data to show JIA risk variants affect innate immunity through enrichment of epigenetic marks in monocytes and macrophages.

The paper identifies epigenetic differences in B cells from treatment-naive pediatric lupus patients compared to healthy children, showing distinct chromatin accessibility patterns and potential regulatory roles in disease.

This paper identifies causal SNPs and their target genes in JIA risk haplotypes using MPRA and CRISPRi, finding 84 SNPs that alter gene expression and regulate multiple genes in TRAF1 and LNPEP/ERAP2 loci.

The paper identifies an intronic enhancer in the IL2RA gene that is functionally attenuated by JIA-associated genetic variants.

This study demonstrates the feasibility of creating multi-dimensional genomic maps for juvenile idiopathic arthritis using limited patient samples and identifies epigenetic and genetic features associated with the disease.

The paper investigates chromatin landscapes and genetic risk loci in JIA by analyzing chromatin marks and transcription in neutrophils and CD4+ T cells, finding that risk loci show specific chromatin features and transcriptional activity.