title: Three common CARD15 mutations are not responsible for the pathogenesis of Crohn's disease in Iranians.
abstract: OBJECTIVE
  Crohn's disease frequency has increased in recent years in Iran. Genetic and environmental factors predispose people to this disease. Mutation in Caspase Recruitment Domain 15 (CARD15) gene is the most well known genetic predisposing factor to this disease. Frequency of three common CARD15 mutations has been studied in different ethnic groups. We aimed to study the frequency of these mutations in Iranian patients affected with Crohn's Disease.
  
  
  METHODS
  One hundred fifteen proved cases of Crohn Disease and 115 age and sex matched normal controls were recruited in this study. Lf1007fs, R702W and G908R mutations were studied by Polymerase Chain Reaction-Restriction Fragment Length Polymorphims (PCR-RFLP) followed by sequencing the positive cases.
  
  
  RESULTS
  Lf1007fs and G908R mutations were not found in either patients or age-sex matched controls. Just in two patients, R702W mutation was proved by Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) and sequencing. None of these patients had illeal or fibrostenotic type of disease while 14.7% of total patients had stricturing type of disease. No complication was seen in these two patients while 50.4% of patients had acquired complications during the course of disease.
  
  
  CONCLUSIONS
  The three mutations described are not responsible for the pathogenesis of Crohn's Disease in Iranians. The results are in accordance with other Asian nations' studies on IBD Patients.
authors.affiliation: Digestive Disease Research Center (DDRC), Shariati Hospital, Tehran University, Medical Sciences North Kargar Street, Tehran, Iran 14117-13135. liosha1380@yahoo.com
authors.forename: Ladan
authors.initials: L
authors.lastname: Teimoori-Toolabi
authors.forename: Homayoun
authors.initials: H
authors.lastname: Vahedi
authors.forename: Hamid
authors.initials: H
authors.lastname: Mollahajian
authors.forename: Esmat
authors.initials: E
authors.lastname: Kamali
authors.forename: Shohreh
authors.initials: S
authors.lastname: Hajizadeh-Sikaroodi
authors.forename: Sirous
authors.initials: S
authors.lastname: Zeinali
authors.forename: Tahmineh
authors.initials: T
authors.lastname: Tabrizian
authors.forename: Golrokh
authors.initials: G
authors.lastname: Olfati
authors.forename: Shahrooz
authors.initials: S
authors.lastname: Rashtak
authors.forename: Fatemeh
authors.initials: F
authors.lastname: Malekzadeh
authors.forename: Alireza
authors.initials: A
authors.lastname: Ghoddosi
authors.forename: Reza
authors.initials: R
authors.lastname: Malekzadeh
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D003424:Crohn Disease / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007492:Iran; D008297:Male; D009154:Mutation; D053473:Nod2 Signaling Adaptor Protein / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length
chemical_list: C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein