Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility

• Published in: Nature genetics Vol. 39; no. 7; pp. 830 - 832
• Main Authors: Parkes, Miles, Barrett, Jeffrey C, Prescott, Natalie J, Tremelling, Mark, Anderson, Carl A, Fisher, Sheila A, Roberts, Roland G, Nimmo, Elaine R, Cummings, Fraser R, Soars, Dianne, Drummond, Hazel, Lees, Charlie W, Khawaja, Saud A, Bagnall, Richard, Burke, Denis A, Todhunter, Catherine E, Ahmad, Tariq, Onnie, Clive M, McArdle, Wendy, Strachan, David, Bethel, Graeme, Bryan, Claire, Lewis, Cathryn M, Deloukas, Panos, Forbes, Alastair, Sanderson, Jeremy, Jewell, Derek P, Satsangi, Jack, Mansfield, John C, Cardon, Lon, Mathew, Christopher G
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group 01.07.2007
• Subjects: Animals; Autophagy - genetics; Biological and medical sciences; Case-Control Studies; Chromosomes; Crohn Disease - genetics; Crohn's disease; Crohns disease; Diagnosis; Fundamental and applied biological sciences. Psychology; Gastroenterology. Liver. Pancreas. Abdomen; Gene expression; Genetic aspects; Genetic Predisposition to Disease; Genetic Variation; Genetics of eukaryotes. Biological and molecular evolution; Genomics; GTP-Binding Proteins - genetics; Humans; Medical sciences; Mice; Other diseases. Semiology; Physiological aspects; Polymorphism, Single Nucleotide; Risk factors; Sequence Analysis, DNA; Single nucleotide polymorphisms; Stomach. Duodenum. Small intestine. Colon. Rectum. Anus; United Kingdom; Variant; Crohn disease; Gene; Digestive diseases; Intestinal disease; Locus; Autophagy; Inflammatory disease
• ISSN: 1061-4036; 1546-1718
• DOI: 10.1038/ng2061

A genome-wide association scan in individuals with Crohn's disease by the Wellcome Trust Case Control Consortium detected strong association at four novel loci. We tested 37 SNPs from these and other loci for association in an independent case-control sample. We obtained replication for the autophagy-inducing IRGM gene on chromosome 5q33.1 (replication P = 6.6 × 10−4, combined P = 2.1 × 10−10) and for nine other loci, including NKX2-3, PTPN2 and gene deserts on chromosomes 1q and 5p13.