Multi-omic Characterization of Genetic Variants in IBD Risk Loci

This study aims to identify potential target genes of GWAS loci for inflammatory bowel diseases (IBD) by mapping expression quantitative trait loci (eQTL) using colon tissue from a cohort of 252 IBD patients. Results were compared to non-IBD colon eQTL from GTEx and BarcUVa-seq (GTEx Consortium, Science 2020 / Díez-Obrero V et al., Cell Mol Gastroenterol Hepatol. 2021). Statistical colocalization of eQTL and GWAS loci revealed novel colocalizations and target genes using diseased tissue. These eQTL also had regulatory and functional characteristics which were distinct from non-IBD eQTL. Available data includes typed and imputed genotypes, raw total RNA-seq, and association results.

• Type: Case Set
• Archive: The database of Genotypes and Phenotypes (dbGaP)