title: Common NOD2 mutations are absent in patients with Crohn's disease in India.
abstract: BACKGROUND
  Crohn's disease is being increasingly diagnosed in the Indian subcontinent. Three apparently common mutations in the NOD2 gene are found in up to 30% of sporadic patients with Crohn's disease in western countries. We examined whether such mutations are also found in Indian patients with Crohn's disease.
  
  
  METHODS
  Venous blood was collected from 82 patients (age range: 7-65 years, 53 men) with Crohn's disease and 149 control subjects; DNA was extracted and subjected to polymerase chain reaction using specific primers. The amplified fragments of size 185, 163 and 151 bp for R702W, G908R and 1007fs, respectively, were digested with MspI, HhaI and ApaI, and the restriction pattern noted after electrophoresis.
  
  
  RESULTS
  Twenty-eight patients had ileocolonic disease, 26 ileal disease, 20 colonic disease and 8 had disease limited to proximal small bowel or stomach. None of the 82 patients showed any of the three NOD2 mutations. The control subjects (93 men) had a variety of chronic gastrointestinal disorders (ulcerative colitis 52, irritable bowel syndrome 30, intestinal tuberculosis 20, colon cancer 7, miscellaneous 37). None of the control subjects showed a mutation in any of the three NOD2 mutation analyses.
  
  
  CONCLUSIONS
  The three NOD2 gene mutations described above are uncommon in Indian patients with Crohn's disease. This study complements information provided by recent studies on NOD2 mutations in Indians.
authors.affiliation: Department of Gastrointestinal Sciences, Christian Medical College, Vellore 632004, India.
authors.forename: Srinivasan
authors.initials: S
authors.lastname: Pugazhendhi
authors.forename: Aneesh
authors.initials: A
authors.lastname: Amte
authors.forename: Ramadass
authors.initials: R
authors.lastname: Balamurugan
authors.forename: Venkataraman
authors.initials: V
authors.lastname: Subramanian
authors.forename: Balakrishnan S
authors.initials: BS
authors.lastname: Ramakrishna
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D016022:Case-Control Studies; D002648:Child; D003424:Crohn Disease / Q000235:genetics*; D005260:Female; D006801:Humans; D007194:India; D008297:Male; D008875:Middle Aged; D053473:Nod2 Signaling Adaptor Protein / Q000235:genetics*; D016133:Polymerase Chain Reaction
chemical_list: C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein