Item request has been placed! ×
Item request cannot be made. ×
loading  Processing Request

Absence of mutation in the NOD2/CARD15 gene among 483 Japanese patients with Crohn's disease.

Item request has been placed! ×
Item request cannot be made. ×
loading   Processing Request
Read Online Read More Add to Saved list
  • Additional Information
    • Source:
      Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print Cited Medium: Print ISSN: 1434-5161 (Print) Linking ISSN: 14345161 NLM ISO Abbreviation: J Hum Genet Subsets: MEDLINE
    • Publication Information:
      Publication: 2009- : London : Nature Pub. Group
      Original Publication: Tokyo : Springer-Verlag, c1998-
    • Subject Terms:
      Genetic Variation* ; Intracellular Signaling Peptides and Proteins*; Carrier Proteins/*genetics ; Crohn Disease/*genetics ; Mutation/*genetics; Crohn Disease/etiology ; DNA Mutational Analysis ; DNA Primers/chemistry ; Genotype ; Humans ; Japan ; Nod2 Signaling Adaptor Protein ; Polymerase Chain Reaction ; Polymorphism, Restriction Fragment Length
    • Abstract:
      Chronic inflammatory bowel diseases (IBDs), specifically Crohn's disease (CD) and ulcerative colitis (UC), have increased significantly in western countries and Japan over the last decade, but very little is known about their pathogenesis. A candidate-gene approach recently identified NOD2/CARD15 as one susceptibility gene from the IBD1 locus on chromosome 16. Alterations in this gene were found in many Caucasian patients with CD; in particular, two nonsynonymous substitutions (R702W and G908R) and a frameshift mutation (1007fs) were shown to be independent risk factors for CD. We investigated DNA from 483 Japanese CD patients to detect those three mutations in NOD2/CARD15 by appropriate genotyping techniques, but found only an R702Q substitution in a single patient. Direct sequencing of DNA from 96 of our patients in the regions containing the three reported major mutations detected no sequence alterations of consequence. Our findings indicate that the NOD2/CARD15 gene is not a major contributor to CD susceptibility in the Japanese population.
    • Comments:
      Erratum in: J Hum Genet. 2003;48(7):397.
    • Accession Number:
      0 (Carrier Proteins)
      0 (DNA Primers)
      0 (Intracellular Signaling Peptides and Proteins)
      0 (NOD2 protein, human)
      0 (Nod2 Signaling Adaptor Protein)
    • Publication Date:
      Date Created: 20020831 Date Completed: 20021206 Latest Revision: 20220318
    • Publication Date:
      20221213
    • Accession Number:
      10.1007/s100380200067
    • Accession Number:
      12202985