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Genetic variants in the autophagy pathway contribute to paediatric Crohn’s disease
  1. N Peterson1,
  2. S Guthery2,
  3. L Denson3,
  4. J Lee4,
  5. S Saeed5,
  6. S Prahalad2,
  7. V Biank1,
  8. R Ehlert1,
  9. G Tomer3,
  10. R Grand4,
  11. C Rudolph1,
  12. S Kugathasan6
  1. 1
    Department of Pediatrics, Children’s Hospital of Wisconsin and Medical College of Wisconsin, Milwaukee, Wisconsin, USA
  2. 2
    Department of Pediatrics, Primary Children’s Hospital and University of Utah, Utah, USA
  3. 3
    Department of Pediatrics, Cincinnati Children’s Medical Center, Cincinnati, Ohio, USA
  4. 4
    Department of Pediatrics, Harvard Medical School and Children’s Hospital of Boston, Boston, Massachusetts, USA
  5. 5
    Department of Pediatrics, Children’s Hospital of Birmingham, University of Alabama, Birmingham, Alabama, USA
  6. 6
    Department of Pediatrics and Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA
  1. Dr S Kugathasan, Department of Pediatrics and Human Genetics, Emory University School of Medicine, 2015 Uppergate Drive, NE, Room 248, Atlanta, GA 30322, USA; subra_kugathasan{at}oz.ped.emory.edu

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Massey and Parkes (Gut 2007;56:1489–92) recently highlighted the impact of genome-wide association (GWA) studies in generating new insights into the aetiology of Crohn’s disease (CD). We share their enthusiasm. However, the mechanisms underlying childhood-onset CD remain unknown. Phenotypic differences among children, the increased risk of CD among family members with early-onset disease and the attractive strategy of stratifying cases by age of onset to understand further the genetic architecture of CD all justify studying children with CD in genetic association studies.

To this end, we tested 11 genetic variants in our paediatric CD population who were recently identified in predominantly adult-onset (mean age of onset ranging from 24 to 27 years) CD GWA studies.16 We studied 555 CD-affected children with the mean age of onset of 11.7 years, and 486 disease-free controls. Individuals were self-identified as …

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