A nonsynonymous SNP in ATG16L1 predisposes to ileal Crohn's disease and is independent of CARD15 and IBD5

Natalie J Prescott, Sheila A Fisher, Andre Franke, Jochen Hampe, Clive M Onnie, Dianne Soars, Richard Bagnall, Muddassar M Mirza, Jeremy Sanderson, Alastair Forbes, John C Mansfield, Cathryn M Lewis, Stefan Schreiber, Christopher G Mathew

Research output: Contribution to journalArticlepeer-review

247 Citations (SciVal)

Abstract

A genome-wide association scan of nonsynonymous DNA polymorphisms identified association of a threonine-to-alanine substitution (T300A) in the autophagy-related 16-like gene ATG16L1 with Crohn's disease. We investigated this association in independent U.K. cohorts of Crohn's disease and ulcerative colitis.
Original languageEnglish
Pages (from-to)1665-71
Number of pages7
JournalGastroenterology
Volume132
Issue number5
DOIs
Publication statusPublished - May 2007

Keywords

  • Adolescent
  • Adult
  • Aged
  • Autophagy
  • Carrier Proteins
  • Child
  • Child, Preschool
  • Chromosomes, Human, Pair 5
  • Cohort Studies
  • Colitis, Ulcerative
  • Crohn Disease
  • Epistasis, Genetic
  • Female
  • Genetic Predisposition to Disease
  • Genotype
  • Great Britain
  • Humans
  • Ileitis
  • Male
  • Middle Aged
  • Models, Genetic
  • Nod2 Signaling Adaptor Protein
  • Polymorphism, Single Nucleotide
  • Risk Factors

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