Genetic variation in IBD: progress, clues to pathogenesis and possible clinical utility. (2nd October 2016)

• Record Type: Journal Article
• Authors: Ye, Byong Duk; McGovern, Dermot P. B.
• Is Part Of: Expert review of clinical immunology. Volume 12:Number 10(2016)
• Page Start: 1091
• Page End: 1107
• Publication Date: 2016-10-02
• Subjects: Inflammatory bowel disease -- Crohn's disease -- ulcerative colitis -- disease susceptibility -- heritability -- genetics -- sequencing -- genome-wide association study -- pharmacogenetics; Clinical immunology -- Periodicals; 616.079
• DOI: 10.1080/1744666X.2016.1184972
• Languages: English
• ISSNs: 1744-666X

Abstract

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.