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Pediatric inflammatory bowel disease: clinical and molecular genetics.

Abstract

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.

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  • Publisher Full Text
  • Authors+Show Affiliations

    ,

    Department of Pediatrics, Children's Research Institute, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.

    ,

    Source

    Inflammatory bowel diseases 13:11 2007 Nov pg 1430-8

    MeSH

    Child
    Genetic Predisposition to Disease
    Humans
    Immunity
    Inflammatory Bowel Diseases
    Membrane Proteins
    Nod2 Signaling Adaptor Protein
    Organic Cation Transport Proteins
    Solute Carrier Family 22 Member 5
    Tumor Suppressor Proteins
    Twin Studies as Topic

    Pub Type(s)

    Journal Article
    Review

    Language

    eng

    PubMed ID

    17600381

    Citation

    Biank, Vincent, et al. "Pediatric Inflammatory Bowel Disease: Clinical and Molecular Genetics." Inflammatory Bowel Diseases, vol. 13, no. 11, 2007, pp. 1430-8.
    Biank V, Broeckel U, Kugathasan S. Pediatric inflammatory bowel disease: clinical and molecular genetics. Inflamm Bowel Dis. 2007;13(11):1430-8.
    Biank, V., Broeckel, U., & Kugathasan, S. (2007). Pediatric inflammatory bowel disease: clinical and molecular genetics. Inflammatory Bowel Diseases, 13(11), pp. 1430-8.
    Biank V, Broeckel U, Kugathasan S. Pediatric Inflammatory Bowel Disease: Clinical and Molecular Genetics. Inflamm Bowel Dis. 2007;13(11):1430-8. PubMed PMID: 17600381.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - Pediatric inflammatory bowel disease: clinical and molecular genetics. AU - Biank,Vincent, AU - Broeckel,Ulrich, AU - Kugathasan,Subra, PY - 2007/6/30/pubmed PY - 2008/2/7/medline PY - 2007/6/30/entrez SP - 1430 EP - 8 JF - Inflammatory bowel diseases JO - Inflamm. Bowel Dis. VL - 13 IS - 11 N2 - 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. SN - 1078-0998 UR - https://www.unboundmedicine.com/medline/citation/17600381/full_citation L2 - http://Insights.ovid.com/pubmed?pmid=17600381 DB - PRIME DP - Unbound Medicine ER -