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We report results of a nonsynonymous SNP scan for ulcerative colitis and identify a previously unknown susceptibility locus at ECM1. We also show that several risk loci are common to ulcerative colitis and Crohn's disease (IL23R, IL12B, HLA, NKX2-3 and MST1), whereas autophagy genes ATG16L1 and IRGM, along with NOD2 (also known as CARD15), are specific for Crohn's disease. These data provide the first detailed illustration of the genetic relationship between these common inflammatory bowel diseases.

Original publication




Journal article


Nat Genet

Publication Date





710 - 712


Autophagy-Related Proteins, Biomarkers, Carrier Proteins, Case-Control Studies, Cohort Studies, Colitis, Ulcerative, Crohn Disease, Extracellular Matrix Proteins, GTP-Binding Proteins, Genetic Predisposition to Disease, HLA-A Antigens, Homeodomain Proteins, Humans, Interleukin-12 Subunit p40, Nod2 Signaling Adaptor Protein, Polymorphism, Single Nucleotide, Protein-Serine-Threonine Kinases, Receptors, Interleukin, Risk Factors