title: Lack of common NOD2 variants in Japanese patients with Crohn's disease.
abstract: OBJECTIVE
  Previous studies have linked Crohn's disease (CD) to the pericentromeric region of chromosome 16 (IBD1). Three independent studies of Western populations have recently shown that 3 variants of NOD2, a gene located at 16q12, are associated with susceptibility to CD. Here, we have evaluated the 3 NOD2 variants in Japanese patients to determine whether the gene is also associated with susceptibility to CD in a non-Western population.
  
  
  METHODS
  Blood samples were obtained from 350 patients with CD, 272 patients with ulcerative colitis, and 292 healthy controls at 3 hospitals in Japan. DNA was sequenced in the region of the 3 NOD2 variants (C2104T in exon 4, G2722C in exon 8, and 3020insC in exon 11) by genomic polymerase chain reaction followed by direct sequencing.
  
  
  RESULTS
  Among the subjects in our 3 study groups, including patients with CD, patients with ulcerative colitis, and healthy controls, none had common NOD2 variants that have been associated with CD in white patients.
  
  
  CONCLUSIONS
  These results indicate that genetic variation, which may predispose some human populations to CD, may not be present in other populations and specifically that common variants in NOD2 found in white patients with CD are not associated with CD in the Japanese population.
authors.affiliation: Department of Internal Medicine, School of Medicine, Keio University, Tokyo, Japan.
authors.forename: Nagamu
authors.initials: N
authors.lastname: Inoue
authors.forename: Kazuo
authors.initials: K
authors.lastname: Tamura
authors.forename: Yoshitaka
authors.initials: Y
authors.lastname: Kinouchi
authors.forename: Yoshihiro
authors.initials: Y
authors.lastname: Fukuda
authors.forename: Seiichi
authors.initials: S
authors.lastname: Takahashi
authors.forename: Yasunori
authors.initials: Y
authors.lastname: Ogura
authors.forename: Naohiro
authors.initials: N
authors.lastname: Inohara
authors.forename: Gabriel
authors.initials: G
authors.lastname: Núñez
authors.forename: Yusuke
authors.initials: Y
authors.lastname: Kishi
authors.forename: Yuji
authors.initials: Y
authors.lastname: Koike
authors.forename: Tooru
authors.initials: T
authors.lastname: Shimosegawa
authors.forename: Takashi
authors.initials: T
authors.lastname: Shimoyama
authors.forename: Toshifumi
authors.initials: T
authors.lastname: Hibi
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence / Q000235:genetics; D002352:Carrier Proteins / Q000235:genetics*; D003093:Colitis, Ulcerative / Q000235:genetics; D003424:Crohn Disease / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D014644:Genetic Variation; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D007564:Japan; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D053473:Nod2 Signaling Adaptor Protein; D012016:Reference Values
chemical_list: D002352:Carrier Proteins; D047908:Intracellular Signaling Peptides and Proteins; C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein