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IL23R Arg381Gln is associated with childhood onset inflammatory bowel disease in Scotland
  1. Johan E Van Limbergen (johanvanlimbergen{at}hotmail.com)
  1. Gastrointestinal Unit, University of Edinburgh, United Kingdom
    1. Richard K Russell (richardkrussell71{at}hotmail.com)
    1. Dept of Paediatric Gastroenterology and Nutrition, Royal Hospital for Sick Children Edinburgh, United Kingdom
      1. Elaine R Nimmo (enimmo{at}staffmail.ed.ac.uk)
      1. Gastrointestinal Unit, University of Edinburgh, United Kingdom
        1. Hazel E Drummond (hdrummon{at}staffmail.ed.ac.uk)
        1. Gastrointestinal Unit, University of Edinburgh, United Kingdom
          1. Linda Smith (linda.smith{at}luht.scot.nhs.uk)
          1. Gastrointestinal Unit, University of Edinburgh, United Kingdom
            1. Niall H Anderson (niall.anderson{at}ed.ac.uk)
            1. Public Health Sciences, University of Edinburgh, United Kingdom
              1. Gail Davies (gdavies2{at}staffmail.ed.ac.uk)
              1. Gastrointestinal Unit, University of Edinburgh, United Kingdom
                1. Peter M Gillett (peter.gillett{at}luht.scot.nhs.uk)
                1. Dept of Paediatric Gastroenterology and Nutrition, Royal Hospital for Sick Children Edinburgh, United Kingdom
                  1. Paraic McGrogan (paraic.mcgrogan{at}yorkhill.scot.nhs.uk)
                  1. Dept of Paediatric Gastroenterology, Yorkhill Hospital Glasgow, United Kingdom
                    1. Kamal Hassan (kamal.hassan{at}yorkhill.scot.nhs.uk)
                    1. Dept of Paediatric Gastroenterology, Yorkhill Hospital Glasgow, United Kingdom
                      1. Lawrence T Weaver (lweaver{at}clinmed.gla.ac.uk)
                      1. Dept of Child Health, University of Glasgow, United Kingdom
                        1. Michael W Bisset (michael.bisset{at}arh.grampian.scot.nhs.uk)
                        1. Dept of Paediatric Gastroenterology, Royal Aberdeen Children's Hospital, United Kingdom
                          1. Gamal Mahdi (gammah1{at}hotmail.com)
                          1. Dept of Paediatric Gastroenterology, Royal Aberdeen Children's Hospital, United Kingdom
                            1. David C Wilson (david.wilson{at}luht.scot.nhs.uk)
                            1. Child Life and Health, University of Edinburgh, United Kingdom
                              1. Jack Satsangi (j.satsangi{at}ed.ac.uk)
                              1. Gastrointestinal Unit, University of Edinburgh, United Kingdom

                                Abstract

                                The discovery of NOD2/CARD15 as the first susceptibility gene in Crohn's disease (CD) has greatly contributed to a fundamental alteration in the direction of basic research in Inflammatory Bowel Disease (IBD), triggering renewed interest in the integrity of the innate immune response in IBD and appropriate orchestration of a subsequent adaptive immune response.(1;2) More widely, in all complex diseases this finding in 2001 provided a much-welcomed and needed proof of principle for non-parametric linkage analysis.

                                Recently, another study with major implications both for CD pathogenesis as well as for investigation of all complex disorders has been published in Science.(3) The North-American consortium performed an association study testing 308,332 markers spanning the entire genome in 567 ileal CD patients and 571 controls of non-Jewish European ancestry. Of the three markers reported to retain significance after stringent Bonferroni correction, two were located in the NOD2/CARD15 gene. The third marker (rs11209026) was a non-synonymous variant in the IL23R (interleukin-23 receptor) gene on Chromosome 1p31. Replication was obtained in the index paper in a Jewish-ancestry ileal CD case-control analysis, by transmission disequilibrium testing (TDT) in 883 families with IBD affected offspring and in a combined case-control analysis of these three cohorts (IBD, p=6.62E-19).

                                • genetics
                                • genome-wide association study
                                • inflammatory bowel disease
                                • paediatrics

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