title: Genetic variation in IBD: progress, clues to pathogenesis and possible clinical utility.
abstract: Epidemiological and clinical studies have suggested that the pathogenesis of inflammatory bowel disease (IBD) is strongly influenced by genetic predisposition. Beyond the limitations of linkage analysis, multiple genome-wide association studies, their meta-analyses, and targeted genotyping array techniques have broadened our understanding of the genetic architecture of IBD. Currently, over 200 single nucleotide polymorphisms are known to be associated with susceptibility to IBD and through functional analysis of genes and loci, a substantial proportion of pathophysiologic mechanisms have been revealed. However, because only a modest fraction of predicted heritability can be explained by known genes/loci, additional strategies are needed including the identification of rare variants with large effect sizes to help explain the missing heritability. Considerable progress is also being made on applying outcomes of genetic research in diagnostics, classification, prognostics, and the development of new therapeutics of IBD.
authors.affiliation: a Department of Gastroenterology and Inflammatory Bowel Disease Center , University of Ulsan College of Medicine, Asan Medical Center , Seoul , Republic of Korea.|b Cedars-Sinai Medical Center , F. Widjaja Foundation Inflammatory Bowel and Immunobiology Research Institute, Medical Genetics Research Institute , Los Angeles , CA , USA.
authors.forename: Byong Duk
authors.initials: BD
authors.lastname: Ye
authors.affiliation: b Cedars-Sinai Medical Center , F. Widjaja Foundation Inflammatory Bowel and Immunobiology Research Institute, Medical Genetics Research Institute , Los Angeles , CA , USA.
authors.forename: Dermot P B
authors.initials: DP
authors.lastname: McGovern
mesh_terms: D000818:Animals; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D055106:Genome-Wide Association Study; D005838:Genotype; D006801:Humans; D015212:Inflammatory Bowel Diseases / Q000453:epidemiology / Q000235:genetics*; D010597:Pharmacogenetics / Q000639:trends; D017422:Sequence Analysis, DNA
keywords: Crohn’s disease; Inflammatory bowel disease; disease susceptibility; genetics; genome-wide association study; heritability; pharmacogenetics; sequencing; ulcerative colitis