Pediatric inflammatory bowel disease: clinical and molecular genetics. Inflamm Bowel Dis 2007 Nov;13(11):1430-8
Date
06/30/2007Pubmed ID
17600381DOI
10.1002/ibd.20213Scopus ID
2-s2.0-36749081017 (requires institutional sign-in at Scopus site) 64 CitationsAbstract
Pediatric-onset inflammatory bowel disease (IBD) is characterized by distinct phenotypic differences compared to adult-onset IBD. This raises the question whether early (pediatric) onset IBD represents the same disease process occurring in adults but merely at an earlier age or does IBD in children have a very different etiology and pathogenesis but with the same clinical presentation as adults. The use of techniques such as whole genome association studies to perform broad, unbiased screening for the contributions of common genetic variations to complex disease has rapidly assisted in the identification of several novel susceptibility loci associated with pediatric-onset Crohn's disease such as IL23R and ATG16L1. These genes join the already confirmed IBD susceptibility genes such as NOD2/CARD15, IBD5, and DLG5. Therefore, there is hope that advances in the field of clinical and molecular genetics will assist in answering the fundamental question of whether pediatric IBD has a different etiology and pathogenesis compared to adult IBD. This review examines the current status of clinical and molecular genetics of pediatric IBD, and highlights the differences between pediatric and adult IBD in disease phenotypes and genotypes. Finally, the future directions of genetic investigations in pediatric IBD are discussed.
Author List
Biank V, Broeckel U, Kugathasan SAuthor
Ulrich Broeckel MD Chief, Center Associate Director, Professor in the Pediatrics department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
ChildGenetic Predisposition to Disease
Humans
Immunity
Inflammatory Bowel Diseases
Membrane Proteins
Nod2 Signaling Adaptor Protein
Organic Cation Transport Proteins
Solute Carrier Family 22 Member 5
Symporters
Tumor Suppressor Proteins
Twin Studies as Topic