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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


Nature genetics

Publication Date





710 - 712


Department of Medical and Molecular Genetics, King's College London School of Medicine, 8th Floor Guy's Tower, Guy's Hospital, London SE1 9RT, UK.


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