Independent and population-specific association of risk variants at the IRGM locus with Crohn's disease

Natalie J Prescott, Katherine M Dominy, Michiaki Kubo, Cathryn M Lewis, Sheila A Fisher, Richard Redon, Ni Huang, Barbara E Stranger, Katarzyna Blaszczyk, Barry Hudspith, Gareth Parkes, Naoya Hosono, Keiko Yamazaki, Clive M Onnie, Alastair Forbes, Emmanouil T Dermitzakis, Yusuke Nakamura, John C Mansfield, Jeremy Sanderson, Matthew E HurlesRoland G Roberts, Christopher G Mathew

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DNA polymorphisms in a region on chromosome 5q33.1 which contains two genes, immunity related GTPase related family, M (IRGM) and zinc finger protein 300 (ZNF300), are associated with Crohn's disease (CD). The deleted allele of a 20 kb copy number variation (CNV) upstream of IRGM was recently shown to be in strong linkage disequilibrium (LD) with the CD-associated single nucleotide polymorphisms and is itself associated with CD (P
Original languageEnglish
Pages (from-to)1828-1839
Number of pages12
JournalHuman Molecular Genetics
Issue number9
Publication statusPublished - 1 May 2010


  • Asian Continental Ancestry Group
  • Base Sequence
  • Crohn Disease
  • DNA Copy Number Variations
  • DNA Primers
  • European Continental Ancestry Group
  • GTP-Binding Proteins
  • Genetic Predisposition to Disease
  • Genetic Variation
  • Genotype
  • Great Britain
  • Haplotypes
  • Humans
  • INDEL Mutation
  • Logistic Models
  • Molecular Sequence Data
  • Oligonucleotide Array Sequence Analysis
  • Promoter Regions, Genetic
  • Reverse Transcriptase Polymerase Chain Reaction
  • Sequence Analysis, DNA

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