Decoding Non-coding SNPs: Systems Genomics Modelling Dissects the Heterogeneity of IBD

ABSTRACT: Abstract Genome-wide association studies have pinpointed numerous susceptibility loci in complex diseases like chronic immune-mediated inflammatory disorders (IMIDs), yet their impact on pathomechanisms remain poorly understood. Low effect sizes, polygenicity, and predominance within non-coding genomic regions remain major challenges to the functional interpretation of IMID-associated single nucleotide polymorphisms (SNPs). To address this, we present a novel systems genomics approach which models the cumulative impact of non-coding SNPs on downstream cellular signalling and gene regulatory networks (GRNs). Applying this to the prototypical chronic IMIDs of Crohn's disease (CD) and ulcerative colitis (UC), both forms of inflammatory bowel disease (IBD), we individually analysed 2,636 patie

SUBMITTER: Dezso Modos 

PROVIDER: S-SCDT-10_1038-S44320-025-00169-3 | biostudies-other |

REPOSITORIES: biostudies-other