Article
IBD risk loci are enriched in multigenic regulatory modules encompassing putative causative genes.
Nature communications - 21 Jun 2018
Momozawa Yukihide, Dmitrieva Julia, Théâtre Emilie, Deffontaine Valérie, Rahmouni Souad, Charloteaux Benoît, Crins François, Docampo Elisa, Elansary Mahmoud, Gori Ann-Stephan, Lecut Christelle, Mariman Rob, Mni Myriam, Oury Cécile, Altukhov Ilya, Alexeev Dmitry, Aulchenko Yuri, Amininejad Leila, Bouma Gerd, Hoentjen Frank, Löwenberg Mark, Oldenburg Bas, Pierik Marieke J, Vander Meulen-de Jong Andrea E, Janneke van der Woude C, Visschedijk Marijn C, Lathrop Mark, Hugot Jean-Pierre, Weersma Rinse K, De Vos Martine, Franchimont Denis, Vermeire Severine, Kubo Michiaki, Louis Edouard, Georges Michel
Abstract excerpt
GWAS have identified >200 risk loci for Inflammatory Bowel Disease (IBD). The majority of disease associations are known to be driven by regulatory variants. To identify the putative causative genes that are perturbed by these variants, we generate a large transcriptome data set (nine disease-relevant cell types) and identify 23,650 cis-eQTL. We show that these are determined by ∼9720 regulatory modules, of which...
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