Association analysis of SLC22A4, SLC22A5 and DLG5 in Japanese patients with Crohn disease

J Hum Genet. 2004;49(12):664-668. doi: 10.1007/s10038-004-0204-x. Epub 2004 Oct 19.


Crohn disease (CD) is an inflammatory bowel disease characterized by chronic transmural, segmental, and typically granulomatous inflammation of the gut. Recently, two novel candidate gene loci associated with CD, SLC22A4 and SLC22A5 on chromosome 5 known as IBD5 and DLG5 on chromosome 10, were identified through association analysis of Caucasian CD patients. We validated these candidate genes in Japanese patients with CD and found a weak but possible association with both SLC22A4 (P=0.028) and DLG5 (P=0.023). However, the reported genetic variants that were indicated to be causative in the Caucasian population were completely absent in or were not associated with Japanese CD patients. These findings imply significant differences in genetic background with CD susceptibility among different ethnic groups and further indicate some difficulty of population-based studies.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Case-Control Studies
  • Chromosomes, Human, Pair 10 / genetics*
  • Chromosomes, Human, Pair 5 / genetics*
  • Crohn Disease / genetics*
  • Female
  • Genetic Predisposition to Disease / genetics*
  • Humans
  • Japan
  • Male
  • Membrane Proteins / genetics*
  • Polymorphism, Single Nucleotide / genetics
  • Quantitative Trait Loci / genetics*
  • Whites


  • Membrane Proteins

Associated data

  • OMIM/266600