Haplotype structure and association to Crohn's disease of CARD15 mutations in two ethnically divergent populations View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2003-01

AUTHORS

Peter J P Croucher, Silvia Mascheretti, Jochen Hampe, Klaus Huse, Henning Frenzel, Monika Stoll, Tim Lu, Susanna Nikolaus, Suk-Kyun Yang, Michael Krawczak, Won Ho Kim, Stefan Schreiber

ABSTRACT

Current debate focuses on the relevance of linkage disequilibrium (LD), ethnicity and underlying haplotype structure to the search for genes involved in complex disorders. The recently described association between single nucleotide polymorphisms (SNPs) of the CARD15 (NOD2) gene and Crohn's disease (CD) in populations of north-European descent provides a test case that we have subjected to detailed SNP haplotype based analyses. We examined 23 SNPs spanning 290 kb, including CARD15, in large North-European and Korean samples of patients with Crohn's disease and normal controls. In Europeans we confirmed that the three disease-associated SNPs occur independently but share a common background haplotype. This suggests a common origin and the possibility of an undiscovered more strongly predisposing mutation. Korean CD patients present a phenotype identical to the European patients and have not previously been screened for CARD15. The three disease-associated SNPs were absent and there was no evidence of association between CARD15 and CD. Consequently, the disease-associated mutations in the Europeans, which are rare, have arisen recently (after the Asian-European split). Our results highlight important issues relevant to mapping the genes that predispose to complex disorders. First, although ethnically divergent populations may present identical phenotypes they do not necessarily share the same set of predisposing genes. Second, although single-locus tests of association showed consistent association with markers throughout the gene, pair-wise LD between markers (r(2) and D') yielded very little information about actual disease-association. Third, a population comparative approach allowed refining of the marker set through the examination of shared polymorphisms and common LD-groups. This approach, in conjunction with the examination of the mutational steps in a haplotype network, allows unambiguous identification of the potentially causative mutations. More... »

PAGES

5200897

References to SciGraph publications

  • 2001-10. The NOD: a signaling module that regulates apoptosis and host defense against pathogens in ONCOGENE
  • 2001-10. Genetic refinement and physical mapping of a chromosome 16q candidate region for inflammatory bowel disease in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2001-10. Islands of linkage disequilibrium in NATURE GENETICS
  • 1987-06. The differential diagnosis of idiopathic inflammatory disease by colorectal biopsy in INTERNATIONAL JOURNAL OF COLORECTAL DISEASE
  • 2001-05. Linkage disequilibrium in the human genome in NATURE
  • 1996-02. Epidemiology of inflammatory bowel disease in different ethnic and religious groups: limitations and aetiological clues in INTERNATIONAL JOURNAL OF COLORECTAL DISEASE
  • 1999-07. Genetic analysis in Italian families with inflammatory bowel disease supports linkage to the IBD1 locus – A GISC study in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 1968-06. Linkage disequilibrium in finite populations in THEORETICAL AND APPLIED GENETICS
  • 2001-02. Comparison of human genetic and sequence-based physical maps in NATURE
  • 2001-05. Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease in NATURE
  • 2001-09. CARD15 mutations in Blau syndrome in NATURE GENETICS
  • 2001-10. Haplotype tagging for the identification of common disease genes in NATURE GENETICS
  • 2001-05. A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease in NATURE
  • 1999-06. Prospects for whole-genome linkage disequilibrium mapping of common disease genes in NATURE GENETICS
  • 1996-02. Mapping of a susceptibility locus for Crohn's disease on chromosome 16 in NATURE
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/sj.ejhg.5200897

    DOI

    http://dx.doi.org/10.1038/sj.ejhg.5200897

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1011406469

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/12529700


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