Resequencing of positional candidates identifies low frequency IL23R coding variants protecting against inflammatory bowel disease

• Published in: Nature genetics Vol. 43; no. 1; pp. 43 - 47
• Main Authors: Georges, Michel, Momozawa, Yukihide, Mni, Myriam, Nakamura, Kayo, Coppieters, Wouter, Almer, Sven, Amininejad, Leila, Cleynen, Isabelle, Colombel, Jean-Frédéric, de Rijk, Peter, Dewit, Olivier, Finkel, Yigael, Gassull, Miquel A, Goossens, Dirk, Laukens, Debby, Lémann, Marc, Libioulle, Cécile, O'Morain, Colm, Reenaers, Catherine, Rutgeerts, Paul, Tysk, Curt, Zelenika, Diana, Lathrop, Mark, Del-Favero, Jurgen, Hugot, Jean-Pierre, de Vos, Martine, Franchimont, Denis, Vermeire, Severine, Louis, Edouard
• Format: Journal Article Web Resource
• Language: English
• Published: New York Nature Publishing Group US 01.01.2011; Nature Publishing Group
• Subjects: 631/208/205/2138; 631/208/727/2000; 692/699/1503/257/1402; Agriculture; Animal Genetics and Genomics; Biological and medical sciences; Biomedical and Life Sciences; Biomedicine; Blood pressure; Cancer Research; Candidates; Case-Control Studies; Colorectal carcinoma; Confidence intervals; Crohn Disease - genetics; Fundamental and applied biological sciences. Psychology; Gastroenterology & hepatology; Gastroenterology. Liver. Pancreas. Abdomen; Gastroentérologie & hépatologie; Gene Function; Genes; Genetic aspects; Genetic Predisposition to Disease; Genetic variance; Genetic Variation; Genetics; Genetics & genetic processes; Genetics of eukaryotes. Biological and molecular evolution; Genetik; Genome-Wide Association Study; Genomics; Génétique & processus génétiques; Human Genetics; Human health sciences; Humans; Inflammatory bowel disease; Inflammatory bowel diseases; Inflammatory Bowel Diseases - genetics; letter; Life sciences; Medical sciences; MEDICIN; Medicin och hälsovetenskap; MEDICINE; Nod2 Signaling Adaptor Protein - genetics; Other diseases. Semiology; Phenotype; Physiological aspects; Polymorphism, Single Nucleotide; Prevention; Receptors, Interleukin - genetics; Sciences de la santé humaine; Sciences du vivant; Sequence Analysis, DNA; Single nucleotide polymorphisms; Standard deviation; Stomach. Duodenum. Small intestine. Colon. Rectum. Anus; Studies; Variant; Inflammatory bowel disease; Crohn disease; Frequency; Digestive diseases; Intestinal disease; Identification; Inflammatory disease; Ulcerative colitis

Genome-wide association studies (GWAS) have identified dozens of risk loci for many complex disorders, including Crohn's disease. However, common disease-associated SNPs explain at most ∼20% of the genetic variance for Crohn's disease. Several factors may account for this unexplained herit...