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IBD5 is associated with an extensive complicated Crohn’s disease feature: implications from genotype–phenotype analysis
  1. S Brescianini1,*,
  2. T Trinh2,*,
  3. M Stoll3,
  4. S Schreiber4,
  5. J D Rioux5,
  6. M J Daly6
  1. 1Istituto Superiore di Sanita’, Rome, Italy
  2. 2University of Virginia Health System, Charlottesville, Virginia, USA
  3. 3Leibniz-Institute for Arteriosclerosis Research, Muenster, Germany
  4. 4Christian-Albrechts-University, Kiel, Germany
  5. 5Universite de Montreal, Montreal Heart Institute, Montreal, Quebec, Canada
  6. 6The Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA
  1. Correspondence to:
    Dr S Brescianini
    Reparto di Epidemiologica Genetica, Centro Nazionale di Epidemiologia, Sorveglianza e Promozione della Salute, Istituto Superiore di Sanità, V.le Regina Elena, 299, 00161 Roma, Italy; sonia.brescianini{at}iss.it

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Currently, decisions regarding patient care in Crohn’s disease are largely dictated by clinical phenotypes, incorporating disease localisation and behaviour. In this context, a molecular classification based on genetic susceptibility can provide a far more meaningful stratification for biologically relevant genotype–phenotype associations, and ultimately, the individualisation of patient treatment.1

The IBD5 risk haplotype (IBD5risk) located within the 5q31 cytokine gene cluster has been unequivocally associated with Crohn’s disease.2 Specific clinical phenotypes have not been firmly established for IBD5risk, although an association with perianal and with fistulising Crohn’s disease has been proposed.3–8 We performed genotype–phenotype correlations for IBD5risk and Crohn’s disease in a cohort of 325 German patients, described elsewhere,3 to determine whether IBD5risk is associated with specific localisation phenotypic features and, in particular, with an extensive disease feature. Disease characteristics and age of onset were also analysed. Phenotyping procedures have been …

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