Functional and Computational Interrogation of the Juvenile Idiopathic Arthritis Risk Loci Identifies Candidate Causal SNPs and Target Genes in CD4+ T cells.

ABSTRACT: GWAS have identified multiple genetic regions that confer risk for juvenile idiopathic arthritis (JIA). However, identifying the single nucleotide polymorphisms (SNPs) that drive disease risk has been impeded by the fact that the SNPs used to identify risk loci are in linkage disequilibrium (LD) with hundreds of other SNPs. Since the causal SNPs remain unknown, it is difficult to identify target genes and thus use genetic information to elucidate disease biology and inform patient care. We next used existing genotyping data from 3,939 children with JIA and 14,412 healthy controls to identify SNPs on JIA risk haplotypes that: present within open chromatin in multiple immune cell types and more common in children with JIA than the controls (p<0.05) in the genotyping data sets. We identified

SUBMITTER: Jiang K 

PROVIDER: S-EPMC12723983 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature